(Q44576806)

English

Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

scientific article published on November 1, 1997

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic (English)

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

dominant dystrophic epidermolysis bullosa

0 references

author name string

A. Kon

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

K. Nomura

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

L. Pulkkinen

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

D. Sawamura

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

I. Hashimoto

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

J. Uitto

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

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publication date

1 November 1997

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

November 1997

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9347800

21 November 2024

full work available at URL

https://doi.org/10.1111/1523-1747.ep12338093

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9347800

21 November 2024

https://api.elsevier.com/content/article/PII:S0022202X15430490?httpAccept=text/xml

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

https://api.elsevier.com/content/article/PII:S0022202X15430490?httpAccept=text/plain

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Journal of Investigative Dermatology

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

109

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

684-687

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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

1

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

2

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

3

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

4

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

5

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

6

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa

7

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene

9

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

10

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

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

11

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

12

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

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

13

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling

14

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa

15

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa

16

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family

17

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

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

19

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Type VII collagen is a major structural component of anchoring fibrils

20

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

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

23

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

24

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

25

1 reference

10.1111/1523-1747.EP12338093

https://api.crossref.org/works/10.1111/1523-1747.EP12338093

21 November 2024

Identifiers

10.1111/1523-1747.EP12338093

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

ResearchGate publication ID

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