High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations

Human Mutation

Volumn 19, Issue 6, 2002, Pages 641-655

  Maclean, Kenneth N ^a   Gaustadnes, Mette ^a,e   Oliveriusová, Jana ^a   Janošík, Miroslav ^a,c   Kraus, Eva ^a   Kožich, Viktor ^c   Kery, Vladimír ^a   Skovby, Flemming ^d   Rüdiger, Niels ^e   Ingerslev, Joørgen ^e   Stabler, Sally P ^b   Allen, Robert H ^b   Kraus, Jan P ^a,f  

^a Children's Hospital Colorado   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

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

^d Rigshospitalet   (Denmark)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

^f UNIVERSITY OF COLORADO   (United States)

Author keywords

synthase; CBS; Cystathionine; Homocysteine; Homocystinuria; S adenosylmethionine; Thrombosis

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; MUTANT PROTEIN; S ADENOSYLMETHIONINE;

ADULT; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONNECTIVE TISSUE DISEASE; ECTOPIA LENTIS; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HOMOCYSTINURIA; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; THROMBOSIS;

ADULT; ANIMALS; CELL LINE; CONNECTIVE TISSUE; CRICETINAE; CRICETULUS; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; ESCHERICHIA COLI; FEMALE; FIBROBLASTS; HOMOCYSTEINE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; S-ADENOSYLMETHIONINE; THROMBOSIS;

EID: 18444416820     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10089     Document Type: Article

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