A Novel Partial Deletion of Exons 2–10 of the STS Gene in Recessive X-Linked Ichthyosis
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چکیده
منابع مشابه
Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2000
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2000.00924.x