Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

Clinical Genetics

Volumn 60, Issue 1, 2001, Pages 46-51

  Altarescu, G M ^a   Goldfarb, L G ^a   Park, K Y ^a   Kaneski, C ^a   Jeffries, N ^a   Litvak, S ^a   Nagle, J W ^a   Schiffmann, R ^a,b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

galactosidase A; Fabry disease; Genotype; Mutation; Phenotype

Indexed keywords

ALPHA GALACTOSIDASE; AMINO ACID; DNA; LYSOSOME ENZYME; TRANSLATION TERMINATION FACTOR;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; FABRY DISEASE; FAMILIAL INCIDENCE; FAMILY STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC PARAMETERS; GENETIC SCREENING; GENOTYPE; HUMAN; INTRON; MALE; MISSENSE MUTATION; NEUROPATHY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; X CHROMOSOME RECESSIVE DISORDER;

ALPHA-GALACTOSIDASE; CODON, NONSENSE; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION;

EID: 0034924174     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600107.x     Document Type: Article

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