Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)

Journal of Inherited Metabolic Disease

Volumn 26, Issue 5, 2003, Pages 509-511

  Linnebank, Michael ^a   Junker, R ^a   Nabavi, D G ^b   Linnebank, A ^a   Koch, H G ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; CYTOSINE; DNA; TYROSINE;

ARTICLE; ATHEROSCLEROSIS; CARBOXY TERMINAL SEQUENCE; CEREBRAL SINUS THROMBOSIS; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GERMANY; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOTHESIS; LENS LUXATION; MAJOR CLINICAL STUDY; MALE; PSYCHOMOTOR RETARDATION; STROKE; SYMPTOM; THROMBOEMBOLISM;

CYSTATHIONINE BETA-SYNTHASE; HUMANS; POINT MUTATION; THROMBOSIS;

EID: 0042328328     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025129528777     Document Type: Article

References (7)

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2. Junker R, Nabavi DG, Wolff E, et al (1998) Plasminogen activator inhibitor-1 4G/4G-genotype is associated with cerebral sinus thrombosis in factor V Leiden carriers. Thromb Haemost 80: 706-707.
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4. Linnebank M, Homberger A, Junker R, Nowak-Goettl U, Harms E, Koch HG (2001) High prevalence of the I278T mutation of the human cystathionine β-synthase detected by a novel screening application. Thromb Haemost 85: 986-988.
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7. Nabavi DG, Junker R, Wolff E, et al (1998) Prevalence of factor V Leiden mutation in young adults with cerebral ischemia: a case-control study on 225 patients. J Neurol 245: 653-658.