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@proceedings{770949,
author = {Jeřábková, Barbora and Fajkusová, Lenka and Bučková, Hana and Veselý, Karel and Gaillyová, Renata},
booktitle = {European Journal of Human Genetics},
keywords = {Epidermolysis Bullosa;},
language = {eng},
title = {Mutation Analysis of Epidermolysis Bullosa in the Czech Republic},
year = {2008}
}
TY - CONF
ID - 770949
AU - Jeřábková, Barbora - Fajkusová, Lenka - Bučková, Hana - Veselý, Karel - Gaillyová, Renata
PY - 2008
TI - Mutation Analysis of Epidermolysis Bullosa in the Czech Republic
KW - Epidermolysis Bullosa;
N2 - The authors present their results of analysis of the COL7A1, KRT5 and KRT14 genes in Czech epidemolysis bullosa patients at the DNA level. Analysis was performed using PCR, denaturing high performance liquid chromatography, high resolution melting analysis and direct sequencing. Determination of EB has important implication for final confirmation of diagnosis, possibility of genetic counselling and early prenatal diagnosis.
ER -
JEŘÁBKOVÁ, Barbora, Lenka FAJKUSOVÁ, Hana BUČKOVÁ, Karel VESELÝ a Renata GAILLYOVÁ. Mutation Analysis of Epidermolysis Bullosa in the Czech Republic. In \textit{European Journal of Human Genetics}. 2008.
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