A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

Jia, Weimin; Hu, Qi; Wu, Yanling; Wang, Jiarui; Liu, Zhenxing; Zhang, Xianqin

Jia, Weimin; Hu, Qi; Wu, Yanling; Wang, Jiarui; Liu, Zhenxing; Zhang, Xianqin.

Afiliação

Jia W; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Hu Q; Department of Geriatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Wu Y; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Wang J; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Liu Z; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Zhang X; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.

J Gene Med ; 22(8): e3191, 2020 08.

Article em En | MEDLINE | ID: mdl-32222108

Assuntos

Doenças Genéticas Ligadas ao Cromossomo X; Deficiência Intelectual/genética; Enzimas de Conjugação de Ubiquitina/genética; Anormalidades Múltiplas/genética; Adulto; Sequência de Aminoácidos; Povo Asiático; Predisposição Genética para Doença; Testes Genéticos; Humanos; Masculino; Mutação; Mutação de Sentido Incorreto; Linhagem; Sequenciamento do Exoma; Adulto Jovem

Palavras-chave

UBE2A; X-linked intellectual disability type Nascimento; mutation; whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Genéticas Ligadas ao Cromossomo X / Enzimas de Conjugação de Ubiquitina / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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