(Q33594092)

28 July 2017

title

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

1 reference

dominant dystrophic epidermolysis bullosa

28 July 2017

main subject

0 references

author name string

al-Imara L

1

1 reference

28 July 2017

Richards AJ

2

1 reference

28 July 2017

Eady RA

3

1 reference

28 July 2017

Leigh IM

4

1 reference

28 July 2017

Farrall M

5

1 reference

28 July 2017

Pope FM

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1992

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

6

1 reference

28 July 2017

page(s)

381-382

1 reference

Type VII collagen is a major structural component of anchoring fibrils

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

Polymerase chain reaction (PCR) for detection of MspI polymorphism at the D3S2 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

Epidermolysis bullosa dystrophica dominans (Pasini)?A primary structural defect of the anchoring fibrils

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015986

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1377750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/1377750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epidermolysis bullosa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1377750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.6.381

1 reference

28 July 2017

1 reference

28 July 2017

1 reference