Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

Journal of Human Genetics

Volumn 52, Issue 10, 2007, Pages 865-870

  Didona, Biagio ^a   Codispoti, Andrea ^b   Bertini, Enrico ^c   Rizzo, Wiliam B ^d   Carney, Gael ^d   Zambruno, Giovanna ^a   Dionisi Vici, Carlo ^c   Paradisi, Mauro ^a   Pedicelli, Cristina ^a   Melino, Gerry ^b,e   Terrinoni, Alessandro ^b  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^e UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Oxidation; Fatty alcohol; Fatty aldehyde; Ichthyosis; Leukotriene; Mental retardation; Mutation; Spastic diplegia

Indexed keywords

ALDEHYDE DEHYDROGENASE; FATTY ALCOHOL; GENOMIC DNA; LEUKOTRIENE; MICROSOME ENZYME;

ALDH3A2 GENE; ARTICLE; DEVELOPMENTAL DISORDER; DNA DETERMINATION; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FIBROBLAST; GENE; GENE MUTATION; HUMAN; ICHTHYOSIS; ITALY; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; OXIDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SJOEGREN LARSSON SYNDROME; WHITE MATTER;

ALDEHYDE OXIDOREDUCTASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; ITALY; MOLECULAR SEQUENCE DATA; MUTATION; SJOGREN-LARSSON SYNDROME;

EID: 34948861078     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0180-z     Document Type: Article

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