Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene

Journal of Pediatrics

Volumn 154, Issue 3, 2009, Pages 431-437

  Janošík, Miroslav ^a   Sokolová, Jitka ^a   Janošíková, Bohumila ^a   Krijt, Jakub ^a   Klatovská, Veronika ^a   Kožich, Viktor ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; CATALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; CYSTATHIONINE BETA SYNTHASE GENE; CZECH REPUBLIC; ENZYME ACTIVITY; ENZYME MECHANISM; ESCHERICHIA COLI; EUROPE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NONHUMAN; NORWAY; PATHOGENICITY; PHENOTYPE; POPULATION; PREVALENCE; PRIORITY JOURNAL; STRUCTURE ANALYSIS;

ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; CYSTATHIONINE BETA-SYNTHASE; CZECH REPUBLIC; ESCHERICHIA COLI; GENE EXPRESSION; GENE FREQUENCY; GENOTYPE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MUTATION; PREVALENCE; PROTEIN FOLDING;

EID: 60249087029     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2008.09.015     Document Type: Article

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