المؤلفون: McEntagart, Meriel, Williamson, Kathleen A, Rainger, Jacqueline K, Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H, Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, DDD Study, van Heyningen, Veronica, Marsh, Joseph A, Elmslie, Frances, FitzPatrick, David R

مصطلحات موضوعية: ACTA2, ITPR1, aniridia, calcium, cerebellar ataxia, cerebellar hypoplasia, cerebellar vermis, inositol triphosphate, iris, Adolescent, Adult, Animals, Cells, Cultured, Child, Female, Genes, Dominant, Humans, Inositol 1,4,5-Trisphosphate Receptors, Intellectual Disability, Lymphocytes, Male, Mice, Microscopy, Confocal, Middle Aged, Mutation, Pedigree, Protein Conformation

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/10019Test; PMC4863663; http://www.cell.com/article/S0002929716300532/pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863663/pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.03.018Test
http://hdl.handle.net/10668/10019Test
http://www.cell.com/article/S0002929716300532/pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863663/pdfTest

المؤلفون: McEntagart, Meriel, Williamson, Kathleen A, Rainger, Jacqueline K, Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H, Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A, Elmslie, Frances, FitzPatrick, David R

المساهمون: DDD Study

المصدر: The American journal of human genetics
AMERICAN JOURNAL OF HUMAN GENETICS
American journal of human genetics, 98 (5
McEntagart, M, Williamson, K A, Rainger, J K, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, L T, Quigley, A, Rainger, J, Dixit, A, Sarkar, A, López Laso, E, Sanchez-Carpintero, R, Barrio, J, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, I K, Prieur, F, Williams, J, Clouston, P, Németh, A H, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, van Heyningen, V, Marsh, J A, Elmslie, F, FitzPatrick, D R & DDD Study 2016, ' A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect ', American Journal of Human Genetics, vol. 98, no. 5, pp. 981-92 . https://doi.org/10.1016/j.ajhg.2016.03.018Test

مصطلحات موضوعية: Adult, Male, MISSENSE MUTATIONS, cerebellar hypoplasia, Génétique clinique, inositol triphosphate, Adolescent, Protein Conformation, aniridia, PHENOTYPE, FAMILIES, GENE DELETION, PROTEIN COMPLEXES, Mice, Report, Intellectual Disability, cerebellar vermis, Journal Article, Genetics, Animals, Humans, Inositol 1,4,5-Trisphosphate Receptors, Genetics(clinical), Lymphocytes, Child, Cells, Cultured, CEREBELLAR-ATAXIA, Genes, Dominant, iris, SPINOCEREBELLAR ATAXIA, ITPR1, Microscopy, Confocal, calcium, Biology and Life Sciences, ANIRIDIA, Middle Aged, Pedigree, ATAXIA TYPE 15, CHANNELOPATHIES, Mutation, Female, Human medicine, cerebellar ataxia, ACTA2, Biologie

وصف الملف: text; pdf; application/pdf; 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::73e67e42cc847a3780e7cb6d000cacb8Test