TY  - GEN
AU  - Ciara,E
AU  - Popowska,E
AU  - Piekutowska-Abramczuk,D
AU  - Jurkiewicz,D
AU  - Borucka-Mankiewicz,M
AU  - Kowalski,Paweł
AU  - Goryluk-Kozakiewicz,B
AU  - Nowaczyk,M J M
AU  - Krajewska-Walasek,M
TI  - SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations
SN  - 1769-7212
PY  - 2007///0220
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Testing
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Neonatal Screening
KW  - Oxidoreductases Acting on CH-CH Group Donors
KW  - genetics
KW  - Point Mutation
KW  - Poland
KW  - epidemiology
KW  - Smith-Lemli-Opitz Syndrome
KW  - enzymology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2006.01.006
ER  -