Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

Journal of the Neurological Sciences

Volumn 312, Issue 1-2, 2012, Pages 123-126

  Sarret, Catherine ^a,b   Rigal, Mélanie ^a   Vaurs Barrière, Catherine ^a   Dorboz, Imen ^a   Eymard Pierre, Eléonore ^a,b   Combes, Patricia ^a,b   Giraud, Geneviève ^a   Wanders, Ronald J A ^c   Afenjar, Alexandra ^d   Francannet, Christine ^b   Boespflug Tanguy, Odile ^a,e  

^a INSERM   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

ALDH3A2; Fatty aldehyde dehydrogenase; Ichthyosis; Mental retardation; Sj gren Larsson syndrome; Spastic paraplegia

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ADULT; ALDH3A2 GENE; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYMATIC ASSAY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; HAPLOTYPE; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SJOEGREN LARSSON SYNDROME; SKIN BIOPSY;

ADOLESCENT; ALDEHYDE OXIDOREDUCTASES; CHILD; COHORT STUDIES; FEMALE; FRANCE; HUMANS; INFANT; MALE; POINT MUTATION; SJOGREN-LARSSON SYNDROME;

EID: 84155165284     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.08.006     Document Type: Article

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