rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
|
8513326 |
1993 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
|
8592061 |
1996 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
|
8757758 |
1996 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
|
8618018 |
1996 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
|
9326325 |
1997 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
9444387 |
1997 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
|
9215684 |
1997 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
|
9740253 |
1998 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
9804332 |
1998 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
|
10084325 |
1999 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
|
10620140 |
2000 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
|
11167698 |
2001 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
|
12787275 |
2003 |
rs139318843
|
|
Hallopeau-Siemens Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
|
20598510 |
2010 |