Identification of three novel SEDL mutations,including mutation in the rare,non-canonical splice site of exon 4期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Identification of three novel SEDL mutations,including mutation in the rare,non-canonical splice site of exon 4

Authors:	Shaw M A Brunetti-Pierri N Kádasi L Kovácová V Van Maldergem L De Brasi D Salerno M Gécz J

Institution:	Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, SA, Australia.

Abstract:

Keywords:	alternative splicing non-canonical splice site novel mutation SEDL spondyloepiphyseal dysplasia tarda Xp22
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