Mutational spectrum in the Δ7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

American Journal of Human Genetics

Volumn 66, Issue 2, 2000, Pages 402-412

  Witsch Baumgartner, M ^a   Fitzky, B U ^b   Ogorelkova, M ^a   Kraft, H G ^a   Moebius, F F ^b,c   Glossmann, H ^b   Seedorf, U ^d   Gillessen Kaesbach, G ^e   Hoffmann, G F ^f   Clayton, P ^g   Kelley, R I ^c   Utermann, G ^a  

^a Inst for Med Biol and Hum Genet   (Austria)

^b Peter Mayr Straße 1   (Austria)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Inst fur Arterioskleroseforschung   (Germany)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DELTA7 STEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG; DRUG DERIVATIVE; LATHOSTEROL DELTA 5 DEHYDROGENASE; LATHOSTEROL DELTA-5-DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL SYNTHESIS; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; GENE MUTATION; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY; SMITH LEMLI OPITZ SYNDROME; ADOLESCENT; ADULT; BLOOD; CELL LINE; CHILD; ENZYMOLOGY; EXON; FEMALE; GENE FREQUENCY; GENETICS; GENOTYPE; INFANT; INTRON; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL MODEL; STOP CODON;

ADOLESCENT; ADULT; AGE OF ONSET; CELL LINE; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; LINEAR MODELS; MALE; MUTATION; MUTATION, MISSENSE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0034134128     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302760     Document Type: Article

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