Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic

Journal of Inherited Metabolic Disease

Volumn 30, Issue 6, 2007, Pages 964-969

  Blahakova, I ^a   Makaturova, E ^a   Kotrbova, L ^a   Soukupova, M ^b   Lastuvkova, J ^b   Kozak, L ^a  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRIOL;

ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; FETUS; GENE MUTATION; GENETIC SCREENING; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MATERNAL SERUM; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PREGNANT WOMAN; PRENATAL SCREENING; SECOND TRIMESTER PREGNANCY; SMITH LEMLI OPITZ SYNDROME;

ALLELES; BIOCHEMISTRY; CODON, NONSENSE; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MASS SCREENING; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; RISK; SMITH-LEMLI-OPITZ SYNDROME;

EID: 37449030403     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0710-z     Document Type: Article

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