Condition: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1


rs57121345 in KRT14 gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 PMID 7526933 1993 A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

rs121912476 in KRT5 gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 PMID 11973334 2002 Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.