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Novel autosomal recessive LAMA 3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
Author(s) -
Ahmad F.,
Shah K.,
Umair M.,
Jan A.,
Khan S.,
Muhammad D.,
Basit S.,
Wakil S. M.,
Ramzan K.,
Ahmad W.
Publication year - 2018
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13610
Subject(s) - epidermolysis bullosa simplex , epidermolysis bullosa , junctional epidermolysis bullosa (veterinary medicine) , dermatology , autosomal recessive inheritance , medicine , biology , genetics , mutation , gene
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