(Q33675218)

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Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

recessive dystrophic epidermolysis bullosa

0 references

author name string

Dunnill MG

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Richards AJ

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Milana G

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Mollica F

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Atherton D

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Winship I

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Farrall M

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

al-Imara L

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Eady RA

9

1 reference

Europe PubMed Central

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28 July 2017

Pope FM

10

1 reference

Europe PubMed Central

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28 July 2017

language of work or name

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publication date

1 October 1994

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

31

1 reference

Europe PubMed Central

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28 July 2017

10

1 reference

Europe PubMed Central

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28 July 2017

745-748

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Type VII collagen is a major structural component of anchoring fibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Epidermolysis Bullosa Dystrophica-Recessive: A Possible Role Of Anchoring Fibrils In The Pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

21 June 2018

Monoclonal antibody GB3, a new probe for the study of human basement membranes and hemidesmosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050118

30 October 2018

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/7837248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.31.10.745

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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