Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Human mutation

Volumn 23, Issue 6, 2004, Pages 631-

  Orendáè, Marek ^a   Pronicka, Ewa ^a   Kubalska, Jolanta ^a   Janosik, Miroslav ^a   Sokolová, Jitka ^a   Linnebank, Michael ^a   Koch, Hans Georg ^a   Kozich, 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;

ARTICLE; ENZYMOLOGY; GENETICS; HOMOCYSTINURIA; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; POLAND;

CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; HOMOCYSTINURIA; HUMANS; MUTATION; POLAND;

MLCS; MLOWN;

EID: 4544370721     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9249     Document Type: Article

References (0)