SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations-Reference-Cited by-同舟云学术

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Published:2006-11 Issue:6 Volume:49 Page:499-504
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ciara E.,Popowska E.,Piekutowska-Abramczuk D.,Jurkiewicz D.,Borucka-Mankiewicz M.,Kowalski Paweł,Goryluk-Kozakiewicz B.,Nowaczyk M.J.M.,Krajewska-Walasek M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference28 articles.

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3. Mutations in the DHCR7 gene and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome;Ciara;Clin. Genet.,2004

4. 3β-hydroxysterol Δ7-reductase and the Smith-Lemli-Opitz syndrome;Correa-Cerro;Mol. Gen. Metab.,2005

5. Smith Lemli Opitz syndrome evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations;De Brasi;Eur. J. Hum. Genet.,1999

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