| BLAHAKOVA, I., E. MAKATUROVA, L. KOTRBOVA, M. SOUKUPOVA, J. LASTUVKOVA and Libor KOZÁK. Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. Journal of Inherited Metabolic Disease. Lancaster (UK): Kluwer Academic Publishers, 2007, vol. 30, No 6, p. 964-969. ISSN 0141-8955. |
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@article{751270,
author = {Blahakova, I. and Makaturova, E. and Kotrbova, L. and Soukupova, M. and Lastuvkova, J. and Kozák, Libor},
article_location = {Lancaster (UK)},
article_number = {6},
keywords = {DHCR7; molecular analysis; prenatal screening; Smith-Lemli-Opitz syndrome; unconjugated estriol},
language = {eng},
issn = {0141-8955},
journal = {Journal of Inherited Metabolic Disease},
title = {Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.},
volume = {30},
year = {2007}
}
TY - JOUR
ID - 751270
AU - Blahakova, I. - Makaturova, E. - Kotrbova, L. - Soukupova, M. - Lastuvkova, J. - Kozák, Libor
PY - 2007
TI - Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
JF - Journal of Inherited Metabolic Disease
VL - 30
IS - 6
SP - 964-969
EP - 964-969
PB - Kluwer Academic Publishers
SN - 01418955
KW - DHCR7
KW - molecular analysis
KW - prenatal screening
KW - Smith-Lemli-Opitz syndrome
KW - unconjugated estriol
N2 - Pregnant women are offered a biochemical screening test for Down syndrome in the second trimester, where the suspicion for SLOS could be registered, when the unconjugated estriol (uE3) level appears low. A group of 456 fetuses with a high risk for SLOS were examined by DNA analysis. We confirmed SLOS in 5 fetuses and 11 fetuses were carriers.Both of them had nonsense mutation on one allele. It stands to reason that some modifying factors may play a role in the reduction of the uE3 level in the mother's serum.
ER -
BLAHAKOVA, I., E. MAKATUROVA, L. KOTRBOVA, M. SOUKUPOVA, J. LASTUVKOVA and Libor KOZÁK. Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. \textit{Journal of Inherited Metabolic Disease}. Lancaster (UK): Kluwer Academic Publishers, 2007, vol.~30, No~6, p.~964-969. ISSN~0141-8955.
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