المؤلفون: 陳慧玲, Chen, Huey-Ling

المساهمون: 張美惠, 陳惠玲, 臺灣大學：

مصطلحات موضوعية: 膽汁滯留, 肝臟, 發育, 細胞治療, 基因, ABC傳送蛋白, Cholestasis, liver, development, cell therapy, gene, ABC transporter

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العلاقة: 參考文獻 1. Alagille D, Estrada A, Hadchouel M, Gautier M, Odierre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases. J Pediatr 1987; 110:195-200. 2. Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroentol Nutr 1994; 18:128-133. 3. Alvarez L, Jara P, Sanchez-Sabate E, Hierro L, Larrauri J, Diaz MC, Camarena C, De La Vega A, Frauca E, Lopez-Collazo E, Lapunzina P. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004; 13:2451-60. 4. Amedee-Manesme O, Bernard O, Brunelle F, Hadchouel M, Polonovski C, Baudon JJ, Beguet P, Alagille D. Sclerosing cholangitis with neonatal onset. J Pediatr 1987; 111:225-229. 5. Baker AJ. Portmann B. Westably D. Wilkinson M, Karani J, Mowat AP. Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1993; 17:317-322. 6. Balistreri WF, Heubi JE, Suchy FJ. Bile acid metabolism: relationship of bile acid malabsorption and diarrhea. J Pediatr Gastroenterol Nutr 1983; 2:105-121. 7. Bergstrand CG. Alfa-fetoprotein in paediatrics. Acta Paediatr Scand 1986; 75:1-9. 8. Bieche I, Onody P, Laurendeau I, Olivi M,Vidaud D, Lidereau R, et al. Real-time reverse transcription–PCR assay for future management of ERBB2-based clinical applications. Clin Chem 1999; 45(8 Pt 1):1148–56. 9. Bliek AM, Kooiman PM, Schneider C, Borst P. Sequence of mdr3 cDNA encoding a human P-glycoprotein. Gene 1988; 401-411. 10. Bloomer JR, Waldmann TA, McIntire KR, Klatskin G. Serum a-fetoprotein in patients with massive hepatic necrosis. Gastroenterology 1977; 72:479-82. 11. 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J Pediatr Gastroenterol Nutr 1987; 6:203-207. 15. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL.Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor . Gastroenterology 2004; 126:756-764. 16. Childs S, Yeh RL, Georges E, Ling V. Identification of a sister gene to P-glycoprotein. Cancer Res 1995; 55:2029-2034. 17. Chiu HH, Chang MH, Chen HL, Hsu HY, Ni YH. Paucity of interlobular bile ducts in Chinese children. J Gastroentrol Hepatol 1996; 11:434-438. 18. Chuang E and Harber BA. Bile secretion and its control in the mature and immature organism. In Polin RA, Fox WW Eds. Fetal and Neonatal Physiology. Philadelphia W.B. Saunders 1998, pp 1457-1471. 19. Clayton RJ. Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969; 117:112-124. 20. 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Dellert SF, Balistreri WF: Neonatal cholestasis. In Walker WA, eds. Pediatric Gastrointestinal disease. Volume 2. 2rd ed. Mosby-Year Book, 1996, 999-1016. 26. Drouin E, Mitchell GA, Rasquin-Weber A. Other Inherited Cholestatic Disorders. In: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB (Eds) Pediatric Gastrointestinal Disease. 3rd Ed. BC Decker Inc, Hamilton, Ontario 2000, pp 1211-1218. 27. Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in liver cells: new clinicopathologic entity with report of 12 cases. Medicine 1954; 33:155-197. 28. Emond JC, Whitington PF. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J Pediatr Surg 1995; 30:1635-1641. 29. Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, Berger R, Houwen RH, Klomp LW. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol. 2001; 35:436-443. 30. Feracci H, Connolly TP, Margolis RN, Hubbard AL. The establishment of hepatocyte cell surface polarity during fetal liver development. Dev Biol 1987; 123:73-84. 31. Gao B, St Pierre MV, Stieger B, Meier PJ. Differential expression of bile salt and organic anion transporters in developing rat liver. J Hepatol. 2004; 41:201-208. 32. Gerloff T, Stieger B, Hagenbuch B, Madon J, Landmann L, Roth J, et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 1998; 273:10046-10050. 33. Hagenbuch B, Steiger B, Fouget M, Lubbert H, Meier PJ. Functional expression cloning and characterization of the hepatocyte Na+/bile acid cotransport system. Proc. Natl. Acad. Sci. USA 1991; 88:10629-10633. 34. Haimi-Cohen Y, Merlob P, Marcus-Eidlits T, Amir J. Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. Clinical Pediatrics 1998; 37:511-513. 35. Hashimoto K, Uchiumi T, Konno T, Ebihara T, Nakamura T, Wada M, et al. Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. Hepatology 2002; 36:1236-1245. 36. Heubi JE, Balistreri WF, Suchy FJ. Bile salt metabolism in the first year of life. J Lab Clin Med 1982; 100:127-136. 37. Ito S, Ieiri I, Tanabe M, Suzuki A, Higuchi S, Otsubo K. Polymorphism of the transporter gene, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. Pharmacogenetics 2001; 11:175-184. 38. Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999; 353:210-211. 39. Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997; 25:519-523. 40. Jansen PJ, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterol 1999; 117:1370-1379. 41. Jirsa M, Cebecauerova D, Budisova L, Chuzhanova N, Hrebicek M, Dvorakova L, Vitek L, Brodanova M, Hulek P, Taimr P. Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. Hepatol Res. 2004; 30:1-3. 42. Kagalwalla AF, Al Amir AR, Khalifa A, Sylven M, Al Ajaji S, Kagalwalla YA Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children. Ann Trop Paediatr 1995; 15:321-327. 43. Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, et al. A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. Biochem Biophys Res Commun 1998; 253:454-457. 44. Kanamura S, Kanai K, Watanabe J. Fine structure and function of hepatocytes during development. J Electron Microsc Tech 1990; 14:92-105. 45. Kartenbeck J, Leuschner U, Mayer R, Keppler D. Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. Hepatology 1996; 23:1061-1066. 46. Kaufman SS. Organogenesis and histologic development of the liver. In Polin RA, Fox WW Eds. Fetal and Neonatal Physiology. Philadelphia W.B. Saunders 1998, pp 1433-1441. 47. Keitel V, Kartenbeck J, Nies AT, Spring H, Brom M, Keppler D. Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome. Hepatology 2000; 32:1317-1328. 48. Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D. A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). Am J Physiol Gastrointest Liver Physiol 2003; 284:G165-174. 49. Kikuchi S, Hata M, Fukumoto K, Yamane Y, Matsui T, Tamura A, et al. Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes. Nat Genet 2002; 31:320-325. 50. Kimura A, Ushijima K, Kage M, Mahara R, Tohma M, Inokuchi T, et al. Neonatal Dubin-Johnson syndrome with severe cholestasis: effective phenobarbital therapy. Acta Paediatr Scand 1991; 80:381-385. 51. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabon-Pena C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004; 40:27-38. 52. Kondo T, Yagi R, Kuchiba K. Dubin-Johnson syndrome in a neonate. N Engl J Med 1975; 292:1028-1029. 53. Lai MW, Chang MH, Hsu SC, Hou JW, Hsu HC, Su CT, Kao CL, Lee CY. Differential diagnosis of cholestasis in infancy: a prospective study. J Pediatr Gastroenterol Nutr 1994; 18:121-127. 54. Lee PI, Chang MH, Chen DS, Hsu HC, Lee CY. Prognostic implications of serum α-fetoprotein levels in neonatal hepatitis. J Pediatr Gastroenterol Nutr. 1990; 11:27-31. 55. Lee PI, Chang MH, Chen DS, Lee CY. Serum alpha-fetoprotein in normal Chinese infants. Acta Paed Sin 1988; 29:152-8. 18. Shneider BL. Genetic cholestasis syndromes. J Pediatr Gastroenterol Nutr 1999; 28:124-131. 56. Lincke CR, Smit JJM, Van der Velde-Koerts T, Borst P. Structure of the human MDR3 gene and physical mapping of the human MDR locus. J Biol Chem 1991; 266: 5303-5310. 57. Lo NS, Chan CW, Hutchison JH. Dubin-Johnson syndrome with some unusual features in a Chinese family. Arch Dis Child 1979; 54:529-533. 58. Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, Bernard O, Jacquemin E. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003; 39:447-452. 59. Materna V, Lage H. Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. J Hum Genet 2003; 48:484-486. 60. Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J Biol Chem 2001; 276:36923-36930. 61. Muller M and Jansen PLM. Molecular aspects of hepatobiliary transport. Am J Physiol 1997; 272:1539-1542. 62. Nakata F, Oyanagi K, Fujiwara M, Sogawa H, Minami R, Horino K, et al. Dubin-Johnson syndrome in a neonate Eur J Pediatr 1979; 132:299-301. 63. Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology. 2002; 123:1659-1666. 64. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz IO, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged 1 gene are responsible for Alagille Syndrome. Nat Genet 1997; 16:235-42. 65. Oude Elferink RPJ, Ottenhoff R, Wijland M, Smit JJM, Schinkel AH. Groen AK. Regulation of biliary lipid secretion by mdr2 P-glycoprotein in the mouse. J Clin Invest 1995; 95:31-38. 66. Paulusma CC, Kool M, Bosma PJ, Scheffer GL, ter Borg F, Scheper RJ, et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 1997; 25:1539-1542. 67. Plass JRM, Mol O, Heegsma J, Geuken M, Faber KN, Jansen PLM, et al. Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump. Hepatology 2002; 35:589-596. 68. Regev RH, Stolar O, Raz A, Dolfin T. Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. J Perinat Med 2002; 30:185-187. 69. Schinkel AH, Roelofs MEM, Borst P. Characterization of the human MDR3 P-glycoprotein and its recognition by P-glycoprotein-specific monoclonal antibodies. Cancer Res 1991; 51:2628-2635. 70. Shani M, Seligsohn U, Gilon E, Sheba C, Adam A. Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. QJM 1970; 39:549-567. 71. Shieh CC, Chang MH, Chen CL. Dubin-Johnson syndrome presenting with neonatal cholestasis. Arch Dis Child 1990; 65:898-899. 72. Shoda J, Suzuki H, Suzuki H, Sugiyama Y, Hirouchi M, Utsunomiya H, et al. Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. Hepatol Res 2003; 27:323-326. 73. Smit JJM, Schinkel AH, Oude Elferink RPJ, Groen AK, Wagenaar E, van Deemter L, Mol CAAM, Ottenhoff R, van der Lugh NM, van Roon MA, van der Valk MA, Offerhaus GJA, Berns AJM, Bosrt P. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993; 75:451-462. 74. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner S, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genetics 1998; 20:233-238. 75. Strautnieks SS, Byrne JA, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Genetic Analysis of the progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutrition 2004; 39 suppl 1, S69. 76. Tate G, Li M, Suzuki T, Mitsuya T. A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. Genes Genet Syst 2002; 77:117-121. 77. Tazawa Y, Yamada M, Nakagawa M, Konno T, Tada T. Bile acid profiles in siblings with progressive intrahepatic cholestasis: absense of biliary chenodeoxycholate. J Pediatr Gastroenterol Nutr 1985; 4:32-37. 78. Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, et al. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am J Hum Genet 1999; 64:739-746. 79. Tomer G, Ananthanarayanan M, Weymann A, Balasubramanian N, Sucy FJ. Differential development regulation of rat liver canalicular membrane transporters Bsep and Mrp2. Pediatr Res 2003; 53:288-294. 80. Tsai WH, Teng RJ, Chu JS, Chang MH, Ho MM. Neonatal Dubin-Johnson syndrome. J Pediatr Gastroenterol Nutr 1994; 18:253-254. 81. Tsujii H, Konig J, Rost D, Stockel B, Leuschner U, Keppler D. Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. Gastroenterology 1999; 117:653-660. 82. Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, Arias IM. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 2001; 34:768-775. 83. van Kuijck MA, Kool M, Merkx GF, Geurts van Kessel A, Bindels RJ, Deen PM, et al. Assignment of the canalicular multispecific organic anion transporter gene (cMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization. Cytogenet Cell Genet 1997; 77:285-287. 84. van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001; 21:535-544. 85. van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004; 127:379-384. 86. Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, et al. Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum Mol Genet 1998; 7:203-207. 87. Wakusawa S, Machida I, Suzuki S, Hayashi H, Yano M, Yoshioka K. Identification of a novel 2026G; zh-TW; http://ntur.lib.ntu.edu.tw/handle/246246/55510Test; http://ntur.lib.ntu.edu.tw/bitstream/246246/55510/1/ntu-93-D87421009-1.pdfTest

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المؤلفون: 黃郁芬, Huang, Yu-Fen

المساهمون: 臺灣大學: 園藝學研究所, 黃鵬林, 杜宜殷

مصطلحات موضوعية: ABC轉運蛋白, 重金屬, 蛋白質定位, ABC transporter, heavy metal, protein localization

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العلاقة: http://ntur.lib.ntu.edu.tw/handle/246246/250448Test; http://ntur.lib.ntu.edu.tw/bitstream/246246/250448/1/ntu-99-R97628127-1.pdfTest

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المؤلفون: 林依潔, Lin, Yi-Chieh

المساهمون: 洪傳揚, 臺灣大學:農業化學研究所

مصطلحات موضوعية: 功能性分析, ABC轉運蛋白, Functional analysis, ABC transporter

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العلاقة: U0001-1808200912182300; http://ntur.lib.ntu.edu.tw/handle/246246/180440Test; http://ntur.lib.ntu.edu.tw/bitstream/246246/180440/1/ntu-98-R96623004-1.pdfTest

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المؤلفون: 林孟均, Lin, Meng-Jin

المساهمون: 黃鵬林, Huang, Pung-Ling, 臺灣大學:園藝學研究所

مصطلحات موضوعية: 香蕉, ABC轉運蛋白, 過量表達, 重金屬, 蛋白質定位, 綠色螢光蛋白, Banana, ABC transporter, overexpression, heavy metal, Protein localization, Green fluorescence protein

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المؤلفون: 楊民宇, Yang, Min-Yu

المساهمون: 洪傳揚, 臺灣大學:農業化學研究所

مصطلحات موضوعية: 水稻, ABC 轉運蛋白, 重金屬, PDR, 啟動子分析, rice, ABC transporter, heavy metal, promoter analysis

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