Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255D, and E312D causing metachromatic leukodystrophy

American Journal of Medical Genetics

Volumn 91, Issue 1, 2000, Pages 68-73

  Hermann, Stefanie ^a   Schestag, Frank ^a   Polten, Andreas ^a   Kafert, Sabine ^b   Penzien, Johann ^b   Zlotogora, Joel ^c   Baumann, Nicole ^d   Gieselmann, Volkmar ^a,e  

^a UNIVERSITY OF KIEL   (Germany)

^b Department of Neuropediatrics ^*

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF BONN   (Germany)

Author keywords

Arylsulfatase A; Lipidosis; Lysosomal storage disease; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE LOCATION; GENETIC TRANSFECTION; HUMAN; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CELL LINE; CEREBROSIDE-SULFATASE; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTAGENESIS; MUTATION, MISSENSE; PLASMIDS; TRANSFECTION;

EID: 0034101718     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000306)91:1<68::AID-AJMG13>3.0.CO;2-G     Document Type: Article

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