Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia (Q48050509)

8 February 2018

title

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia (English)

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8 February 2018

junctional epidermolysis bullosa

main subject

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Pulkkinen L

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8 February 2018

Kimonis VE

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8 February 2018

Xu Y

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8 February 2018

Spanou EN

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8 February 2018

McLean WH

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8 February 2018

Uitto J

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8 February 2018

publication date

1 May 1997

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8 February 2018

published in

Human Molecular Genetics

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8 February 2018

volume

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8 February 2018

issue

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8 February 2018

page(s)

669-674

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8 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Molecular complexity of the cutaneous basement membrane zone

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4

21 January 2018

1 reference

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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

21 January 2018

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Cell type-specific integrin variants with alternative alpha chain cytoplasmic domains

21 January 2018

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Biochemical characterization and tissue distribution of the A and B variants of the integrin alpha 6 subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.669

21 January 2018

Identifiers

DOI

10.1093/HMG/6.5.669

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8 February 2018

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8 February 2018