Condition: Epidermolysis Bullosa Simplex Kobner


rs1057515580 in KLHL24 gene and Epidermolysis Bullosa Simplex Kobner PMID 27889062 2016 Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

PMID 27798626 2016 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

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.

rs121912475 in KRT5 gene and Epidermolysis Bullosa Simplex Kobner PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 7534039 1995 Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

PMID 7686424 1993 Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.

PMID 11407988 2001 A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with 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 9740251 1998 A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.