Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles

Human mutation

Volumn 18, Issue 6, 2001, Pages 548-549

  Sokolova J ^a   Janosikova B ^a   Terwilliger, J D ^b   Freiberger, T ^c   Kraus, J P ^d   Kozich, V ^a  

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

^b Columbia University and Columbia Genome Center ^*  (United States)

^c Research Institute of Child Health Brno   (Czech Republic)

^d Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; DNA;

ALLELE; ARTICLE; BLOOD; CHEMISTRY; COMPARATIVE STUDY; CZECH REPUBLIC; ENZYMOLOGY; GENETICS; GENOTYPE; HOMOCYSTINURIA; HUMAN; INCIDENCE; METHODOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREVALENCE; URINE;

ALLELES; COMPARATIVE STUDY; CYSTATHIONINE BETA-SYNTHASE; CZECH REPUBLIC; DNA; DNA MUTATIONAL ANALYSIS; GENOTYPE; HOMOCYSTINURIA; HUMAN; INCIDENCE; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PREVALENCE; SUPPORT, NON-U.S. GOV'T;

EID: 0035653286     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1239     Document Type: Article

References (0)