Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation

Human Genetics

Volumn 102, Issue 4, 1998, Pages 459-463

  Gomez Lira, Macarena ^a   Perusi, Chiara ^a   Mottes, Monica ^a   Pignatti, Pier Franco ^a   Manfredi, Michela ^a   Rizzuto, Nicolò ^a   Salviati, Alessandro ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MOLECULAR GENETICS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCREENING;

ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CELLS, CULTURED; CEREBROSIDE-SULFATASE; CHILD; CRICETINAE; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTATION; PHENOTYPE;

EID: 0031898880     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050721     Document Type: Article

References (25)

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