Impaired heme binding and aggregation of mutant cystathionine β-synthase subunits in homocystinuria

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1506-1513

  Janošík, Miroslav ^a,b   Oliveriusová, Jana ^b   Janošík , Bohumila ^a,b   Sokolová, Jitka ^a   Kraus, Eva ^b   Kraus, Jan P ^b   Kožich, Viktor ^a,b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; CYSTATHIONINE BETA SYNTHASE; HEME; MESSENGER RNA; POLYPEPTIDE; PYRIDOXINE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CZECHOSLOVAKIA; ENZYME DEFICIENCY; ESCHERICHIA COLI; FEMALE; FIBROBLAST CULTURE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HOMOCYSTINURIA; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN BINDING; PROTEIN FOLDING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOP CODON; TREATMENT FAILURE;

ESCHERICHIA COLI;

EID: 0034993033     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320597     Document Type: Article

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