المؤلفون: Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan

المصدر: Chinese Medical Journal, Vol 130, Iss 9, Pp 1049-1054 (2017)

مصطلحات موضوعية: Connexin 32, Gap Junction Beta-1 Protein, Neuropathy, X-linked Charcot-Marie-Tooth Type 1, Medicine

وصف الملف: electronic resource

العلاقة: http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=9;spage=1049;epage=1054;aulast=LuTest; https://doaj.org/toc/0366-6999Test

الوصول الحر: https://doaj.org/article/1b7d00fef45b41b09d7702f948cbd30eTest

المؤلفون: Panosyan, Francis B, Laura, Matilde, Rossor, Alexander M, Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W, Lewis, Richard A, Day, John, Horvath, Rita, Herrmann, David N, Shy, Michael E, Pareyson, Davide, Reilly, Mary M, Scherer, Steven S, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Amino Acid Sequence, Charcot-Marie-Tooth Disease, Child, Connexins, Cross-Sectional Studies, Family, Female, Genetic Association Studies, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Neural Conduction, Phenotype, Sex Characteristics, Young Adult, Gap Junction beta-1 Protein

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/290336Test

الإتاحة: https://doi.org/10.17863/CAM.37566Test
https://www.repository.cam.ac.uk/handle/1810/290336Test

المؤلفون: Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G, Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F, Horvath, Rita

مصطلحات موضوعية: Adolescent, Adult, Aged, Analysis of Variance, Charcot-Marie-Tooth Disease, Cohort Studies, Connexins, DNA Mutational Analysis, Electromyography, England, Family Health, Female, GTP Phosphohydrolases, Genetic Heterogeneity, Hereditary Sensory and Motor Neuropathy, Humans, Male, Middle Aged, Mitochondrial Proteins, Mutation, Myelin Proteins, Neural Conduction, Young Adult, Gap Junction beta-1 Protein

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/298183Test

الإتاحة: https://doi.org/10.17863/CAM.45237Test
https://www.repository.cam.ac.uk/handle/1810/298183Test

المؤلفون: Yuanyuan Lu, Suqin Jin, Wei Zhang, Jing Liu, Zhaoxia Wang, Yuehuan Zuo, Yun Yuan, He Lyu

المصدر: Chinese Medical Journal, Vol 130, Iss 9, Pp 1049-1054 (2017)
Chinese Medical Journal

مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, Neurology, Gap Junction Beta-1 Protein, DNA Mutational Analysis, lcsh:Medicine, Disease, Gene mutation, Gastroenterology, Connexins, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Genotype, Child, Sanger sequencing, education.field_of_study, General Medicine, Electrophysiology, Phenotype, Child, Preschool, symbols, Connexin 32, Female, Original Article, Adult, X-linked Charcot-Marie-Tooth Type 1, medicine.medical_specialty, Adolescent, Young Adult, 03 medical and health sciences, symbols.namesake, Internal medicine, medicine, Humans, education, Gene, Retrospective Studies, business.industry, lcsh:R, Infant, Retrospective cohort study, Neuropathy, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8aa817f41e29cb2962702f615808b5dTest
http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=9;spage=1049;epage=1054;aulast=LuTest

المؤلفون: Lu, Yuan-Yuan, Lyu, He, Jin, Su-Qin, Zuo, Yue-Huan, Liu, Jing, Wang, Zhao-Xia, Zhang, Wei, Yuan, Yun

المساهمون: Yuan, Y (reprint author), Peking Univ, Dept Neurol, Hosp 1, 8 Xishiku St, Beijing 100034, Peoples R China., Peking Univ, Dept Neurol, Hosp 1, 8 Xishiku St, Beijing 100034, Peoples R China.

المصدر: CSCD ; SCI ; 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhcmj201709007.aspxTest

مصطلحات موضوعية: Connexin 32, Gap Junction Beta-1 Protein, Neuropathy, X-linked Charcot-Marie-Tooth Type 1, GAP-JUNCTION PROTEIN, NERVOUS-SYSTEM INVOLVEMENT, MOLECULAR ANALYSIS, JAPANESE PATIENTS, BETA-1 GENE, GJB1 GENE, MUTATION, FAMILY, CX32

العلاقة: CHINESE MEDICAL JOURNAL.2017,130(9),1049-1054.; 1907742; http://hdl.handle.net/20.500.11897/473486Test; WOS:000400528300007

الإتاحة: https://doi.org/20.500.11897/473486Test
https://doi.org/10.4103/0366-6999.204925Test
https://hdl.handle.net/20.500.11897/473486Test