Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy

Journal of Clinical Neuroscience

Volumn 13, Issue 4, 2006, Pages 443-448

  Bertelli, M ^a   Gallo, S ^a   Buda, A ^a   Cecchin, S ^a   Fabbri, A ^a   Lapucci, C ^a   Andrighetto, G ^a   Sidoti, V ^a   Lorusso, L ^a   Pandolfo, M ^a  

^a Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus   (Italy)

Author keywords

Arylsulfatase A deficiency; Metachromatic leukodystrophy; Novel mutations

Indexed keywords

CEREBROSIDE SULFATASE; CYSTINE; GLUTAMIC ACID; GLYCINE; LEUCINE; PROLINE; SERINE;

ADOLESCENT; ADULT; ALLELE; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; FAMILY; FEMALE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; ITALY; MALE; METACHROMATIC LEUKODYSTROPHY; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD;

ADOLESCENT; CEREBROSIDE-SULFATASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; ITALY; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 33646490870     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2005.03.039     Document Type: Article

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