(Q24308020)

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

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

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transmembrane protein

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Generalized atrophic benign epidermolysis bullosa

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Laminin subunit beta 3

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GOA release 2020-03-11

structural molecule activity

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GOA release 2020-03-11

bullous pemphigoid

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based on heuristic

inferred from title

author name string

J A McGrath

1

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B Gatalica

2

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A M Christiano

3

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K Li

4

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K Owaribe

5

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J R McMillan

6

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R A Eady

7

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J Uitto

8

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language of work or name

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publication date

September 1995

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Nature Genetics

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11

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1

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83-6

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Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038/NG0995-83

20 April 2017

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

1 reference

https://api.crossref.org/works/10.1038/NG0995-83

20 April 2017

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

1 reference

https://api.crossref.org/works/10.1038/NG0995-83

20 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/NG0995-83

20 April 2017

A new nomenclature for the laminins

1 reference

https://api.crossref.org/works/10.1038/NG0995-83

20 April 2017

Generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

21 January 2018

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

21 January 2018

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

21 January 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

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesm

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0995-83

7 January 2021

based on heuristic

inferred from DOI database lookup

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