|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
BEFREE |
Although no special characteristic features of the mutations were identified, a high diversity of COL7A1 mutations was shown even in DEB, pretibial.
|
29500833 |
2018 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
|
23616197 |
2013 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
BEFREE |
A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
|
23624125 |
2013 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.
|
11781296 |
2002 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
BEFREE |
Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified.
|
10583163 |
1999 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
BEFREE |
Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.
|
7738360 |
1995 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
UNIPROT |
We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent.
|
8541842 |
1995 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
BEFREE |
We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent.
|
8541842 |
1995 |
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
Biomarker |
HPO |
|
|
|
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
Biomarker |
CTD_human |
|
|
|
|
| Entrez Id: |
1294 |
| Gene Symbol: |
COL7A1 |
COL7A1
|
Epidermolysis bullosa, pretibial
|
0.750 |
GermlineCausalMutation |
ORPHANET |
|
|
|
|
| Entrez Id: |
977 |
| Gene Symbol: |
CD151 |
CD151
|
Epidermolysis bullosa, pretibial
|
0.100 |
Biomarker |
HPO |
|
|
|
|
| Entrez Id: |
1280 |
| Gene Symbol: |
COL2A1 |
COL2A1
|
Epidermolysis bullosa, pretibial
|
0.100 |
Biomarker |
HPO |
|
|
|