De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.-论文-万方医学网

第一作者： Jean-Baptiste,Rivière

第一单位： Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA.

作者： Jean-Baptiste,Rivière ^[1] ; Bregje W M,van Bon ; Alexander,Hoischen ; Stanislav S,Kholmanskikh ; Brian J,O'Roak ; Christian,Gilissen ; Sabine,Gijsen ; Christopher T,Sullivan ; Susan L,Christian ; Omar A,Abdul-Rahman ; Joan F,Atkin ; Nicolas,Chassaing ; Valerie,Drouin-Garraud ; Andrew E,Fry ; Jean-Pierre,Fryns ; Karen W,Gripp ; Marlies,Kempers ; Tjitske,Kleefstra ; Grazia M S,Mancini ; Małgorzata J M,Nowaczyk ; Conny M A,van Ravenswaaij-Arts ; Tony,Roscioli ; Michael,Marble ; Jill A,Rosenfeld ; Victoria M,Siu ; Bert B A,de Vries ; Jay,Shendure ; Alain,Verloes ; Joris A,Veltman ; Han G,Brunner ; M Elizabeth,Ross ; Daniela T,Pilz ; William B,Dobyns

作者单位： Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA. ^[1]

主题词畸形, 多发性(Abnormalities, Multiple);肌动蛋白类(Actins);青少年(Adolescent);成年人(Adult);氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);脑(Brain);儿童(Child);眼缺损(Coloboma);DNA拷贝数变异(DNA Copy Number Variations);发育障碍(Developmental Disabilities);女(雌)性(Female);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);神经系统畸形(Nervous System Malformations);PAX9转录因子(PAX9 Transcription Factor);序列比对(Sequence Alignment);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion);综合征(Syndrome)

DOI 10.1038/ng.1091

PMID 22366783

发布时间 2022-03-30

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Nature genetics

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Nature genetics

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Nature genetics

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