Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Human mutation

Volumn 25, Issue 4, 2005, Pages 412-

  Witsch Baumgartner, M ^a   Clayton, P ^a   Clusellas, N ^a   Haas, D ^a   Kelley, R I ^a   Krajewska Walasek, M ^a   Lechner, S ^a   Rossi, M ^a   Zschocke, J ^a   Utermann, G ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; 7-DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENETICS; HUMAN; INFANT; ITALY; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME; SPAIN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; SPAIN;

EID: 23944498167     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9328     Document Type: Article

References (0)