A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.

Xia, X Y; Yu, J; Li, W W; Li, N; Wu, Q Y; Zhou, X; Cui, Y X; Li, X J

Xia, X Y; Yu, J; Li, W W; Li, N; Wu, Q Y; Zhou, X; Cui, Y X; Li, X J.

Afiliação

Xia XY; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Yu J; Department of Orthopaedics, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Li WW; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Li N; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Wu QY; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Zhou X; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Cui YX; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Li XJ; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.

Genet Mol Res ; 13(2): 3362-70, 2014 Apr 29.

Article em En | MEDLINE | ID: mdl-24841781

Assuntos

Códon sem Sentido/genética; Proteínas de Membrana Transportadoras/genética; Osteocondrodisplasias/genética; Fatores de Transcrição/genética; Adulto; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Pessoa de Meia-Idade; Osteocondrodisplasias/patologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas de Membrana Transportadoras / Fatores de Transcrição / Códon sem Sentido Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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