Defective cystathionine β-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient

Journal of Clinical Investigation

Volumn 98, Issue 2, 1996, Pages 285-289

  Kluijtmans, Leo A J ^a   Boers, Godfried H J ^a   Stevens, Erik M B ^a   Renier, Willy O ^a   Kraus, Jan P ^b   Trijbels, Frans J M ^a   Van Den Heuvel, Lambert P W J ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

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

Author keywords

cystathionine synthase deficiency; genetic mutation; homocysteine; in vitro expression; methionine

Indexed keywords

BETAINE; COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE; DNA FRAGMENT; FOLIC ACID; HOMOCYSTEINE; METHIONINE; PYRIDOXINE; S ADENOSYLMETHIONINE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE MUTATION; HOMOCYSTINURIA; HUMAN; HUMAN CELL; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION SITE;

EID: 0030057995     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118791     Document Type: Article

References (31)

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