Genomic analysis of Brazilian patients with fabry disease

Brazilian Journal of Medical and Biological Research

Volumn 40, Issue 12, 2007, Pages 1599-1604

  Pereira, F S ^a   Jardim, L B ^a   Netto, C B ^a   Burin, M G ^a   Cecchin, C ^a   Giugliani, R ^a,b   Matte, U S ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Fabry disease; GLA gene; Globotriaosylceramide storage; Lysosomal disorders; Galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE; DNA; GLOBOTRIAOSYLCERAMIDE;

ADOLESCENT; ADULT; BRAZIL; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA EXTRACTION; ENZYME ASSAY; ENZYME DEFICIENCY; ETHNIC GROUP; EXON; FABRY DISEASE; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DRIFT; GENETIC HETEROGENEITY; GENOMICS; HEART DISEASE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INCIDENCE; KIDNEY DISEASE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REVIEW; VASCULAR DISEASE; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

EID: 38349125658     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2006005000138     Document Type: Review

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