文献
J-GLOBAL ID:201702281010268150
整理番号:17A1441484
BAF複合体の成分をコードするACTL6Aにおけるヘテロ接合変異は知的障害と関連している【Powered by NICT】
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
著者 (26件):
Marom Ronit
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Jain Mahim
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Burrage Lindsay C.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Song I-Wen
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Graham Brett H.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Brown Chester W.
(Department of Pediatrics/Genetics Division, University of Tennessee Health Science Center Memphis, Memphis, Tennessee)
,
Stevens Servi J.C.
(Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands)
,
Stegmann Alexander P.A.
(Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands)
,
Gunter Andrew T.
(Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi)
,
Kaplan Julie D.
(Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi)
,
Gavrilova Ralitza H.
(Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota)
,
Gavrilova Ralitza H.
(Department of Neurology, Mayo Clinic, Rochester, Minnesota)
,
Shinawi Marwan
(Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri)
,
Rosenfeld Jill A.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Bae Yangjin
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Tran Alyssa A.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Chen Yuqing
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Lu James T.
(Helix, San Carlos, California)
,
Gibbs Richard A.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Gibbs Richard A.
(Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas)
,
Eng Christine
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Yang Yaping
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
,
Rousseau Justine
(Department of Pediatrics, CHU Ste-Justine and University of Montreal, Montreal, Canada)
,
de Vries Bert B.A.
(Department of Human Genetics and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands)
,
Campeau Philippe M.
(Department of Pediatrics, CHU Ste-Justine and University of Montreal, Montreal, Canada)
,
Lee Brendan
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
資料名:
Human Mutation
(Human Mutation)
巻:
38
号:
10
ページ:
1365-1371
発行年:
2017年
JST資料番号:
W2601A
ISSN:
1059-7794
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)