Metachromatic leukodystrophy: Subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease

Molecular Genetics and Metabolism

Volumn 67, Issue 3, 1999, Pages 206-212

  Qu, Yong ^a   Shapira, Emmanuel ^b   Desnick, Robert J ^c  

^a HA Chapman Institute of Medical Genetics   (United States)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Arylsulfatase A; Immunoblotting; Isoelectric focusing; Metachromatic leukodystrophy; Mutation identification

Indexed keywords

CEREBROSIDE SULFATASE; DNA; GENE PRODUCT; SULFATIDE;

ALLELE; ARTICLE; CONTROLLED STUDY; ENZYME PURIFICATION; FIBROBLAST CULTURE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; ISOELECTRIC FOCUSING; ISOELECTRIC POINT; JUVENILE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MOLECULAR WEIGHT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

EID: 0032807057     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2865     Document Type: Article

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