Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F10%3A00045866" target="_blank" >RIV/00216224:14310/10:00045866 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/10:#0001115 RIV/65269705:_____/10:#0000930

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

Original language description

Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder where blistering occurs in the sublamina densa zone at the level of anchoring fibrils of the dermo-epidermal junction zone. Both autosomal dominant (DDEB) and recessive (RDEB)forms result from mutations in the type VII collagen gene (COL7A1). The purpose of this study was to analyse the COL7A1 gene and perform genotype-phenotype correlations in Czech patients with DEB. DNA analysis of the COL7A1 gene was performed in 27 probands with diagnosis of RDEB and 6 probands with diagnosis of DDEB. 29 different sequence variants were found, ten of which have not been reported previously In the set of our RDEB patients, the most frequent mutation was the splice site mutation c.425A&gt;G (29,6% of RDEB mutant alleles)

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)<br>V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

JOURNAL OF DERMATOLOGICAL SCIENCE

ISSN

0923-1811

e-ISSN

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Volume of the periodical

59

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

5

Pages from-to

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UT code for WoS article

000280675200010

EID of the result in the Scopus database

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