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Volumn 23, Issue 4, 2000, Pages 409-412
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Smith-Lemli-Opitz syndrome: Molecular-genetic analysis of ten families
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Author keywords
[No Author keywords available]
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Indexed keywords
7 DEHYDROCHOLESTEROL;
COMPLEMENTARY DNA;
OXIDOREDUCTASE;
CLINICAL ARTICLE;
CONFERENCE PAPER;
FEMALE;
GENE MUTATION;
GENE SEQUENCE;
GENETIC ANALYSIS;
HUMAN;
INFANT;
MALE;
MOLECULAR CLONING;
NEWBORN;
PRESCHOOL CHILD;
SMITH LEMLI OPITZ SYNDROME;
CODON, NONSENSE;
FEMALE;
HUMANS;
INFANT;
INFANT, NEWBORN;
MALE;
MUTATION, MISSENSE;
OXIDOREDUCTASES;
OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;
RNA SPLICING;
SMITH-LEMLI-OPITZ SYNDROME;
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EID: 0034081440
PISSN: 01418955
EISSN: None
Source Type: Journal
DOI: 10.1023/A:1005616321794 Document Type: Conference Paper |
Times cited : (16)
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References (7)
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