Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: Analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families

British Journal of Dermatology

Volumn 153, Issue 4, 2005, Pages 774-779

  Anstey, Alex V ^a   Azurdia, R M ^b   Rhodes, L E ^c   Pearse, A D ^a   Bowden, P E ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

7 dehydrocholesterol reductase; DHCR7; Gene mutation; Photosensitivity; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INTRON; MALE; MISSENSE MUTATION; PHOTOSENSITIVITY DISORDER; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SMITH LEMLI OPITZ SYNDROME; UNITED KINGDOM;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GREAT BRITAIN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHOTOSENSITIVITY DISORDERS; POINT MUTATION; SMITH-LEMLI-OPITZ SYNDROME;

EID: 26244436876     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06761.x     Document Type: Article

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