Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene

Human Mutation

Volumn 9, Issue 3, 1997, Pages 234-242

  Draghia, Ruxandra ^a,c   Letourneur, Franck ^a,b   Drugan, Cristina ^a,d   Manicom, Jeanne ^a   Blanchot, Christophe ^a   Kahn, Axel ^a   Poenaru, Livia ^a   Caillaud, Catherine ^a  

^a INSERM   (France)

^b Fournier Institute   (France)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d Medicine and Pharmacy University   (Romania)

Author keywords

arylsulfatase A; metachromatic leukodystrophy; mutations

Indexed keywords

CEREBROSIDE SULFATASE;

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; EXON; GENE AMPLIFICATION; GENE DELETION; GEOGRAPHIC DISTRIBUTION; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL;

EID: 0030993432     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7     Document Type: Article

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