Detection of congenital generalized lipodystrophy mutations by next-generation sequencing: time for a new approach
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چکیده
منابع مشابه
Detection of congenital generalized lipodystrophy mutations by next-generation sequencing: time for a new approach
Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndro...
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2015
ISSN: 1758-5996
DOI: 10.1186/1758-5996-7-s1-a260