| JEŘÁBKOVÁ, Barbora, Lenka KOPEČKOVÁ, Hana BUČKOVÁ, Karel VESELÝ, Jana VALÍČKOVÁ a Lenka FAJKUSOVÁ. Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. JOURNAL OF DERMATOLOGICAL SCIENCE. IRELAND: ELSEVIER IRELAND LTD, 2010, roč. 59, č. 2, 5 s. ISSN 0923-1811. |
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@article{913193,
author = {Jeřábková, Barbora and Kopečková, Lenka and Bučková, Hana and Veselý, Karel and Valíčková, Jana and Fajkusová, Lenka},
article_location = {IRELAND},
article_number = {2},
keywords = {COL7A1; epidermolysis bullosa dystrophica; mutation analysis; immunohistochemical analysis},
language = {eng},
issn = {0923-1811},
journal = {JOURNAL OF DERMATOLOGICAL SCIENCE},
title = {Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations},
volume = {59},
year = {2010}
}
TY - JOUR
ID - 913193
AU - Jeřábková, Barbora - Kopečková, Lenka - Bučková, Hana - Veselý, Karel - Valíčková, Jana - Fajkusová, Lenka
PY - 2010
TI - Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations
JF - JOURNAL OF DERMATOLOGICAL SCIENCE
VL - 59
IS - 2
PB - ELSEVIER IRELAND LTD
SN - 09231811
KW - COL7A1
KW - epidermolysis bullosa dystrophica
KW - mutation analysis
KW - immunohistochemical analysis
N2 - 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>G (29,6% of RDEB mutant alleles)
ER -
JEŘÁBKOVÁ, Barbora, Lenka KOPEČKOVÁ, Hana BUČKOVÁ, Karel VESELÝ, Jana VALÍČKOVÁ a Lenka FAJKUSOVÁ. Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. \textit{JOURNAL OF DERMATOLOGICAL SCIENCE}. IRELAND: ELSEVIER IRELAND LTD, 2010, roč.~59, č.~2, 5 s. ISSN~0923-1811.
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