Smith-Lemli-Opitz syndrome: Evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 937-940

  De Brasi, D ^a   Esposito, T ^b   Rossi, M ^a   Parenti, G ^a   Sperandeo, M P ^a   Zuppaldi, A ^a   Bardaro, T ^b   Ambruzzi, Ma ^c   Zelante, L ^d   Ciccodicola, A ^b   Sebastio, G ^a   D'Urso, M ^b   Andria, G ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c Dietologia Clin Osp Pediatrico B   (Italy)

^d Servizio di Genetica Medica   (Italy)

Author keywords

DHCR7 mutations; Smith Lemli Opitz syndrome; 7 sterol reductase

Indexed keywords

LATHOSTEROL; OXIDOREDUCTASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DISORDERS OF CHOLESTEROL METABOLISM; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; INTRON; ITALY; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SPLICEOSOME;

EID: 0033380871     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200390     Document Type: Article

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