Variant: rs59110575 

    present in Gene: KRT14
    present in Chromosome: 17
    Position on Chromosome: 41586471
    Alleles of this Variant: G/A

rs59110575 in KRT14 gene and Epidermolysis Bullosa Herpetiformis Dowling-Meara PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 9804355 1998 Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).

PMID 7688405 1993 A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.

PMID 10733662 2000 Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.

PMID 10583131 1999 A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.

PMID 10730767 2000 Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

PMID 8601736 1996 Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 12603865 2003 Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

PMID 11710919 2001 Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.

PMID 10820403 2000 DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.

PMID 14987259 2004 Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

PMID 1717157 1991 Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

PMID 12707098 2003 Epidermolysis bullosa simplex in Israel: clinical and genetic features.

PMID 7561171 1995 Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

PMID 12655565 2003 Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

rs59110575 in KRT14 gene and Epidermolysis Bullosa Simplex Kobner PMID 10733662 2000 Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.

PMID 11710919 2001 Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.

PMID 10820403 2000 DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.

PMID 7526926 1994 A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.

PMID 7682883 1993 A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PMID 1720261 1991 Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.