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.