Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy

Molecular Genetics and Metabolism

Volumn 80, Issue 3, 2003, Pages 360-363

  Olkhovich, Natalia V ^a   Takamura, Noboru ^b   Pichkur, Natalia A ^c   Gorovenko, Natalia G ^a   Aoyagi, Kiyoshi ^b   Yamashita, Shunichi ^b  

^a Department of Medical Genetics   (Ukraine)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^c Center of Medical Genetics and Primary Health Care   (Armenia)

Author keywords

Arylsulfatase A; Genotype phenotype correlation; Metachromatic leukodystrophy; Mutations

Indexed keywords

CEREBROSIDE SULFATASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY LOSS; HUMAN; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0142154016     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.08.004     Document Type: Article

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