Heterozygous frameshift mutation in keratin 5 in a family with G alli– G alli disease
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چکیده
منابع مشابه
Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease
BACKGROUND Reticulate pigmentary disorders include the rare autosomal dominant Galli-Galli disease (GGD) and Dowling-Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES To identify the underlying genetic defect ...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2014
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.12813