TY  - GEN
AU  - Witsch-Baumgartner,M
AU  - Fitzky,B U
AU  - Ogorelkova,M
AU  - Kraft,H G
AU  - Moebius,F F
AU  - Glossmann,H
AU  - Seedorf,U
AU  - Gillessen-Kaesbach,G
AU  - Hoffmann,G F
AU  - Clayton,P
AU  - Kelley,R I
AU  - Utermann,G
TI  - Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
SN  - 0002-9297
PY  - 2000///0330
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Cell Line
KW  - Child
KW  - Child, Preschool
KW  - Cholesterol
KW  - analogs & derivatives
KW  - Codon, Nonsense
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Gene Frequency
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Introns
KW  - Linear Models
KW  - Male
KW  - Mutation
KW  - Mutation, Missense
KW  - Oxidoreductases
KW  - deficiency
KW  - Oxidoreductases Acting on CH-CH Group Donors
KW  - Phenotype
KW  - Polymorphism, Single-Stranded Conformational
KW  - Smith-Lemli-Opitz Syndrome
KW  - blood
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/302760
ER  -