Metachromatic leucodystrophy in three families from Nova Scotia, Canada: A recurring mutation in the arylsulphatase A gene

Journal of Medical Genetics

Volumn 34, Issue 6, 1997, Pages 493-498

  Coulter Mackie, Marion B ^a,c   Gagnier, Liane ^a   Jill Beis, M ^b   Applegarth, Derek A ^a,c   Cole, David E C ^d   Gordon, Kevin ^e   Ludman, Mark D ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e Izaak Walton Killam Hospital for Children   (Canada)

Author keywords

Arylsulphatase A; Lysosomal storage disease; Metachromatic leucodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; CANADA; CASE REPORT; CHILD; CHO CELL; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXPRESSION VECTOR; FAMILY; FEMALE; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MALE; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PHENOTYPE; PLASMID; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

EID: 0030977482     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.6.493     Document Type: Article

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