Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene

British Journal of Dermatology

Volumn 154, Issue 4, 2006, Pages 770-773

  Auada, M P ^a   Puzzi, M B ^a   Cintra, M L ^a   Steiner, C E ^a   Alexandrino, F ^a   Sartorato, E L ^a   Aguiar, T S ^b   Azulay, R D ^b   Carney, G ^c   Rizzo, W B ^c  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b Santa Casa do Rio de Janeiro   (Brazil)

^c NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Fatty aldehyde dehydrogenase; Ichthyosis; Mutation; Sj gren Larsson syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE; FATTY ALDEHYDE DEHYDROGENASE; GENE PRODUCT; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; AGAR GEL ELECTROPHORESIS; ALDH3A2 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC PREDISPOSITION; HISTOPATHOLOGY; HUMAN; ICHTHYOSIS; MALE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING TEST; SJOEGREN LARSSON SYNDROME; SKIN FIBROBLAST;

ADOLESCENT; ADULT; ALDEHYDE OXIDOREDUCTASES; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC SCREENING; HUMANS; MALE; MUTATION; RNA SPLICE SITES; SJOGREN-LARSSON SYNDROME;

EID: 33644867611     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07135.x     Document Type: Article

References (8)

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