Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

Neurological Research

Volumn 31, Issue 1, 2009, Pages 60-66

  Önder, Evren ^a   Sinici, Incilay ^a   Sönmez, F Müjgan ^b   Topçu, Meral ^a   Özkara, H Asuman ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

Arylsulfatase a; Exon 5 mutations; Exon 7 polymorphism; Metachromatic leukodystrophy; Missense mutations; Pseudodeficiency

Indexed keywords

AGAROSE; CEREBROSIDE SULFATASE; DNA; GLUTAMIC ACID; LYSINE; SULFATE; THREONINE; TRYPTOPHAN;

ALPHA HELIX; ARTICLE; BETA SHEET; CHILD; CLINICAL ARTICLE; COMPREHENSION; CONFORMATION; DNA FLANKING REGION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PROTEIN POLYMORPHISM; PROTEIN STRUCTURE;

BASE SEQUENCE; CEREBROSIDE-SULFATASE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 60949091696     PISSN: 01616412     EISSN: None     Source Type: Journal    
DOI: 10.1179/016164108X323762     Document Type: Article

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