Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy

Neurochemical Research

Volumn 29, Issue 5, 2004, Pages 933-942

  Yaghootfam, Afshin ^a   Baumann, Nicole ^b   Schwarz, Andreas ^a   Gieselmann, Volkmar ^a  

^a UNIVERSITY OF BONN   (Germany)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Arylsulfatase A; Metachromatic leukodystrophy; Pseudodeficiency; Sulfatide

Indexed keywords

CEREBROSIDE SULFATASE; NUCLEOTIDE; SULFATIDE;

ALLELE; ANIMAL CELL; ARTICLE; CODON; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME ACTIVITY; FEMALE; GENETIC RECOMBINATION; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MOUSE; NONHUMAN; NONSENSE MUTATION; POLYADENYLATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ANIMAL; CELL LINE; ENZYMOLOGY; GENETIC POLYMORPHISM; GENETICS; HAMSTER; METABOLISM; NORTHERN BLOTTING; SERODIAGNOSIS; SITE DIRECTED MUTAGENESIS;

ANIMALIA;

ALLELES; ANIMALS; BLOTTING, NORTHERN; CELL LINE; CEREBROSIDE-SULFATASE; CRICETINAE; LEUKODYSTROPHY, METACHROMATIC; MUTAGENESIS, SITE-DIRECTED; POLYMORPHISM, GENETIC; PRECIPITIN TESTS; SULFOGLYCOSPHINGOLIPIDS;

EID: 3142663086     PISSN: 03643190     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:NERE.0000021237.55037.35     Document Type: Article

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