The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Human mutation

Volumn 24, Issue 4, 2004, Pages 352-353

  Linnebank, Michael ^a   Janosik, Miroslav ^a   Kozich, Viktor ^a   Pronicka, Ewa ^a   Kubalska, Jolanta ^a   Sokolova, Jitka ^a   Linnebank, Anja ^a   Schmidt, Eva ^a   Leyendecker, Christina ^a   Klockgether, Thomas ^a   Kraus, Jan Peter ^a   Koch, Hans Georg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; PYRIDOXINE;

ALLELE; ARTICLE; AUSTRIA; DRUG RESISTANCE; EASTERN EUROPE; ETHNOLOGY; EXON; FEMALE; FOUNDER EFFECT; GENE DELETION; GENETICS; GENOTYPE; GERMANY; HAPLOTYPE; HOMOCYSTINURIA; HUMAN; JEW; MALE; MISSENSE MUTATION; PHYSIOLOGY; RNA SPLICING; STATISTICAL MODEL; TURKEY (REPUBLIC);

ALLELES; AUSTRIA; CYSTATHIONINE BETA-SYNTHASE; DRUG RESISTANCE; EUROPE, EASTERN; EXONS; FEMALE; FOUNDER EFFECT; GENOTYPE; GERMANY; HAPLOTYPES; HOMOCYSTINURIA; HUMANS; JEWS; LIKELIHOOD FUNCTIONS; MALE; MUTATION, MISSENSE; RNA SPLICE SITES; SEQUENCE DELETION; TURKEY; VITAMIN B 6;

EID: 16644377256     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9280     Document Type: Article

References (0)