Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations

European Journal of Human Genetics

Volumn 9, Issue 1, 2001, Pages 45-50

  Witsch Baumgartner, M ^a   Ciara, E ^b   Loffler J ^a   Menzel, H J ^a   Seedorf, U ^c   Burn, J ^d   Gillessen Kaesbach, G ^e   Hoffmann, G F ^f   Fitzky, B U ^g   Mundy, H ^h   Clayton, P ^h   Kelley, R I ⁱ   Krajewska Walasek, M ^b   Utermann, G ^a  

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

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c Inst for Arteriosclerosis Research   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

^g Institute for Biochemical Pharmacology   (Austria)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cholesterol; Mutational spectra; Population genetics; SLOS

Indexed keywords

CHOLESTEROL; OXIDOREDUCTASE; STEROL;

ALLELE; ARTICLE; AUSTRIA; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CHOLESTEROL SYNTHESIS; EUROPE; FOUNDER EFFECT; GENE MUTATION; GEOGRAPHY; GERMANY; HAPLOTYPE; HISTORY; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; POLAND; POPULATION; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; UNITED KINGDOM;

EID: 0035146784     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200579     Document Type: Article

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