|
rs1228667876
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB).
|
29182795 |
2018 |
|
rs372918810
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB).
|
29182795 |
2018 |
|
rs143457874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrated the absence of the recurrent mutations R578X, 7786delG, and R2814X in 42 non-British patients with DEB and detected the mutations 425A-->G in a French patient and G2043R in Japanese and Chinese patients with DEB.
|
14727126 |
2004 |
|
rs372166543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations 5818delC, 6573+1G-->C, and E2857X were detected in 11 Japanese patients (13 alleles) with DEB.
|
14727126 |
2004 |
|
rs1368134215
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report two novel mutations found in a patient affected by the most severe form of DEB, the recessive Hallopeau-Siemens variant (HS-RDEB): the R1978X nonsense mutation, in exon 72, and the -96C-->T transition, in the promoter region.
|
10980546 |
2000 |
|
rs121912836
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We demonstrated the absence of the recurrent mutations R578X, 7786delG, and R2814X in 42 non-British patients with DEB and detected the mutations 425A-->G in a French patient and G2043R in Japanese and Chinese patients with DEB.
|
14727126 |
2004 |
|
rs121912836
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Given the widespread geographical distribution of this mutation and the demonstration of its occurrence as a de novo event, G2043R therefore represents the first example of a mutational hotspot in dominant DEB.
|
9892921 |
1998 |
|
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
|
29130490 |
2017 |
|
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
|
27899325 |
2017 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
|
26763448 |
2016 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
|
27544590 |
2016 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
|
24947307 |
2015 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
|
26102279 |
2015 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
|
25155989 |
2014 |
|
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
|
24279917 |
2013 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.
|
24032424 |
2013 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
|
21471992 |
2011 |
|
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
|
20357813 |
2010 |
|
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
|
19681861 |
2009 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa.
|
19439919 |
2009 |
|
rs747912732
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
|
17916216 |
2007 |
|
rs886058642
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |
|
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
|
16439963 |
2006 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
|
16484981 |
2006 |