Molecular analysis of homocystinuria in Brazilian patients

Clinica Chimica Acta

Volumn 362, Issue 1-2, 2005, Pages 71-78

  Porto, Marianna P R ^a   Galdieri, Luciano C ^a   Pereira, Vanessa G ^a   Vergani, Naja ^a   Da Rocha, José Cláudio C ^a   Micheletti, Cecília ^a   Martins, Ana Maria ^a   Perez, Ana Beatriz A ^a   D'Almeida, Vânia ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Cystathionine synthase; Factor V Leiden; Homocystinuria; Methionine synthase; Methylenetetrahydrofolate reductase; Mutation analysis; Prothrombin

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE SYNTHASE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID DEFICIENCY; ARTICLE; BRAZIL; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME POLYMORPHISM; EXON; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HOMOCYSTINURIA; HUMAN; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; URINALYSIS;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADOLESCENT; ADULT; ALLELES; BRAZIL; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; EXONS; FEMALE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 27244450378     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2005.05.030     Document Type: Article

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