| KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, věra JUTTNEROVÁ, Vladimír BZDUCH a Petr ŠIMEK. Smith-Lemli-Opitz syndrome: Molecular- genetic analysis of ten families. J. Inherit. Metab. Dis. UK: Springer, 2000, roč. 23, č. 12, s. 409-412. ISSN 0141-8955. |
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@article{833283,
author = {Kozák, Libor and Francová, Hana and Hrabincová, Eva and Procházková, Dagmar and Juttnerová, věra and Bzduch, Vladimír and Šimek, Petr},
article_location = {UK},
article_number = {12},
keywords = {SLOS syndrome molecular analysis},
language = {eng},
issn = {0141-8955},
journal = {J. Inherit. Metab. Dis.},
title = {Smith-Lemli-Opitz syndrome: Molecular- genetic analysis of ten families},
url = {http://www.jimd.org},
volume = {23},
year = {2000}
}
TY - JOUR
ID - 833283
AU - Kozák, Libor - Francová, Hana - Hrabincová, Eva - Procházková, Dagmar - Juttnerová, věra - Bzduch, Vladimír - Šimek, Petr
PY - 2000
TI - Smith-Lemli-Opitz syndrome: Molecular- genetic analysis of ten families
JF - J. Inherit. Metab. Dis.
VL - 23
IS - 12
SP - 409-412
EP - 409-412
PB - Springer
SN - 01418955
KW - SLOS syndrome molecular analysis
UR - http://www.jimd.org
L2 - http://www.jimd.org
N2 - Diagnosis of SLOS is extremely important for effective medical and genetic counseling of families, as well as for the prevention of severe clinical disorders and disability of patients
ER -
KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, věra JUTTNEROVÁ, Vladimír BZDUCH a Petr ŠIMEK. Smith-Lemli-Opitz syndrome: Molecular- genetic analysis of ten families. \textit{J. Inherit. Metab. Dis.}. UK: Springer, 2000, roč.~23, č.~12, s.~409-412. ISSN~0141-8955.
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