(Q47926940)

English

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

scientific article published in April 1998

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9640376%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9640376%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

junctional epidermolysis bullosa

0 references

bullous pemphigoid

1 reference

based on heuristic

inferred from title

5

1 reference

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12 November 2019

author name string

J E Mellerio

1

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12 November 2019

J E Denyer

2

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12 November 2019

D J Atherton

3

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12 November 2019

R A Eady

4

1 reference

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12 November 2019

language of work or name

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publication date

1 April 1998

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12 November 2019

British Journal of Dermatology

1 reference

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12 November 2019

138

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12 November 2019

4

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12 November 2019

661-666

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12 November 2019

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/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

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/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

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/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

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/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Human gene mutations affecting RNA processing and translation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1998.02182.X

21 January 2018

Identifiers

10.1046/J.1365-2133.1998.02182.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9640376%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9640376%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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