Variant: rs1439299333 

    present in Gene: COL7A1;MIR711
    present in Chromosome: 3
    Position on Chromosome: 48580908
    Alleles of this Variant: C/T

rs1439299333 in COL7A1;MIR711 gene and Hallopeau-Siemens Disease PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 12787275 2003 Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

PMID 8592061 1996 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

PMID 8618018 1996 Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

PMID 9804332 1998 Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 10620140 2000 Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

PMID 9444387 1997 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 8513326 1993 A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

PMID 8757758 1996 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

PMID 11167698 2001 Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.