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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
Affiliation: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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