(Q28270168)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513326%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

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

1 reference

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recessive dystrophic epidermolysis bullosa

13 October 2019

main subject

0 references

1 reference

2

1 reference

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13 October 2019

Alain Hovnanian

8

1 reference

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13 October 2019

author name string

Christiano AM

1

1 reference

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13 October 2019

Hoffman GG

3

1 reference

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13 October 2019

Zhang X

4

1 reference

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13 October 2019

Tamai Y

5

1 reference

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13 October 2019

Lin AN

6

1 reference

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13 October 2019

Dietz HC

7

1 reference

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13 October 2019

Uitto J

9

1 reference

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13 October 2019

language of work or name

English

0 references

publication date

1 May 1993

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13 October 2019

1 reference

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13 October 2019

volume

4

1 reference

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13 October 2019

page(s)

62-66

1 reference

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13 October 2019

issue

1

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0593-62

13 October 2019

exact match

0 references

cites work

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1 reference

https://api.crossref.org/works/10.1038/NG0593-62

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0593-62

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0593-62

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 April 2017

1 reference

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

21 January 2018

1 reference

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

21 January 2018

1 reference

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 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

Of mice and men: genetic skin diseases of keratin

1 reference

7 January 2021

Molecular genetics of epidermolysis bullosa

1 reference

7 January 2021

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

7 January 2021

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

7 January 2021

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis

1 reference

7 January 2021

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

1 reference

7 January 2021

The structure and function of type VII collagen

1 reference

7 January 2021

Molecular biology and pathology of type VII collagen

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes

1 reference

7 January 2021

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene

1 reference

7 January 2021

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1

1 reference

7 January 2021

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

1 reference

7 January 2021

Collagen biosynthesis by human skin fibroblasts. I. Optimization of the culture conditions for synthesis of type I and type III procollagens

1 reference

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0593-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8513326%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference