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A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
J Genet ; 2009 Apr; 88(1): 87-91
Article in English | IMSEAR | ID: sea-114206
Full text: Available Index: IMSEAR (South-East Asia) Main subject: Osteochondrodysplasias / Pedigree / Membrane Transport Proteins / Transcription Factors / Female / Humans / Male / Molecular Sequence Data / Base Sequence / Family Country/Region as subject: Asia Language: English Journal: J Genet Year: 2009 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Osteochondrodysplasias / Pedigree / Membrane Transport Proteins / Transcription Factors / Female / Humans / Male / Molecular Sequence Data / Base Sequence / Family Country/Region as subject: Asia Language: English Journal: J Genet Year: 2009 Type: Article