SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
Ciara, E
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. [electronic resource] - European journal of medical genetics - 499-504 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1769-7212
10.1016/j.ejmg.2006.01.006 doi
Alleles
Amino Acid Substitution
Female
Genes, Recessive
Genetic Testing
Heterozygote
Humans
Infant, Newborn
Male
Neonatal Screening
Oxidoreductases Acting on CH-CH Group Donors--genetics
Point Mutation
Poland--epidemiology
Smith-Lemli-Opitz Syndrome--enzymology
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. [electronic resource] - European journal of medical genetics - 499-504 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1769-7212
10.1016/j.ejmg.2006.01.006 doi
Alleles
Amino Acid Substitution
Female
Genes, Recessive
Genetic Testing
Heterozygote
Humans
Infant, Newborn
Male
Neonatal Screening
Oxidoreductases Acting on CH-CH Group Donors--genetics
Point Mutation
Poland--epidemiology
Smith-Lemli-Opitz Syndrome--enzymology