Indentification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

Journal of Inherited Metabolic Disease

Volumn 25, Issue 7, 2002, Pages 557-570

  Zeng, B J ^a   Wang, Z H ^a   Ribeiro, L A ^a,b   Leone, P ^c   De Gasperi, R ^a   Kim, S J ^a   Raghavan, S ^a   Ong, E ^a   Pastores, G M ^a   Kolodny, E H ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^c UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTOACYLASE; COMPLEMENTARY DNA; ESTERASE; GLUTAMIC ACID; NUCLEOTIDE; AMIDASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; CANAVAN DISEASE; CELL STRAIN COS7; CLINICAL ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA FLANKING REGION; ENZYME ASSAY; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; ETHNIC GROUP; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INSERTION; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; JEW; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN DEATH; NONHUMAN; ONSET AGE; PROTEIN DOMAIN; REVIEW; STOP CODON; ARTICLE; ENZYMOLOGY; EXON; GENE DELETION; GENETICS; GENOTYPE; INFANT; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE;

AMIDOHYDROLASES; BASE SEQUENCE; CANAVAN DISEASE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; JEWS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION;

EID: 0036881453     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022091223498     Document Type: Review

References (26)

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