A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2
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چکیده
منابع مشابه
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary sp...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2008
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20602