Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome

Annals of Human Genetics

Volumn 65, Issue 3, 2001, Pages 229-236

  Jira, P E ^a   Wanders, R J A ^b   Smeitink, J A M ^a   De Jong, J ^a   Wevers, R A ^a   Oostheim, W ^b   Tuerlings, J H A M ^a   Hennekam, R G M ^b   Sengers, R C A ^a   Waterham, H R ^b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; OXIDOREDUCTASE;

ARTICLE; BIOCHEMISTRY; BIRTH; BLOOD LEVEL; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MISSENSE MUTATION; NEWBORN; NEWBORN DEATH; PHENOTYPE; PRECURSOR; PRIORITY JOURNAL; RNA SPLICING; SMITH LEMLI OPITZ SYNDROME; TISSUE LEVEL;

CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MUTATION; MUTATION, MISSENSE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; RNA SPLICING; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0034932580     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0003480001008600     Document Type: Article

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