Literature DB >> 7561153

Mutations in epidermolysis bullosa simplex.

L A Goldsmith.   

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Year:  1995        PMID： 7561153     DOI： 10.1111/1523-1747.ep12323382

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  1 in total

1.  Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India.

Authors:  Shamsudheen K Vellarikkal; Ashok Patowary; Meghna Singh; Renu Kumari; Mohammed Faruq; Dilip C Master; Sridhar Sivasubbu; Vinod Scaria
Journal:  Hum Genome Var       Date:  2014-09-04
  1 in total

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