A novel mutation of the DHCR7 gene in a Sicilian compound heterozygote with Smith-Lemli-Opitz syndrome

Molecular Diagnosis

Volumn 9, Issue 4, 2005, Pages 201-204

  Romano, Fabrizio ^a   Fiore, Barbara ^a   Pezzino, Franca Maria ^a   Longombardo, Maria Teresa ^a   Cefalù, Angelo Baldassare ^b   Noto, Davide ^b   Puglisi, Ambra ^a   Brogna, Alfio ^a   Mattina, Teresa ^a   Averna, Maurizio ^b   Travali, Salvatore ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; BIOSYNTHESIS; CASE REPORT; DATA ANALYSIS; DHCR7 GENE; DIAGNOSTIC ACCURACY; EUROPE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INCIDENCE; ITALY; MALE; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRESCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME;

HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; SICILY; SMITH-LEMLI-OPITZ SYNDROME;

EID: 30044439750     PISSN: 10848592     EISSN: 10848592     Source Type: Journal    
DOI: 10.2165/00066982-200509040-00006     Document Type: Article

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