First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene [1]

Thrombosis Research

Volumn 115, Issue 6, 2005, Pages 535-536

  Ahmed, R P H ^a   Biswas, Arijit ^a   Kannan, Meganathan ^a   Bhattacharya, Maitreyee ^a   Geisen, Christof ^a   Seifried, Erhard ^a   Oldenburg, Johannes ^a   Saxena, Renu ^a  

^a INSTITUTE ROTARY CANCER HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7;

AMINO ACID SUBSTITUTION; ANAMNESIS; BLEEDING TIME; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INDIAN; LETTER; LIVER FUNCTION; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRIORITY JOURNAL; PROTHROMBIN TIME; SCHOOL CHILD; THROMBIN TIME; THROMBOCYTE COUNT;

EID: 15744398453     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2004.11.004     Document Type: Letter

References (5)

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2. J.H. McVey, E. Boswell, A.D. Mumford, G. Kemball-Cook, and E.G. Tuddenham Factor VII deficiency and the FVII mutation database Human Mutat. 17 1 2001 3 17
3. D.S. Millar, G. Kemball-Cook, J.H. McVey, E.G. Tuddenham, A.D. Mumford, and G.B. Attock Molecular analysis of the genotype-phenotype relationship in factor VII deficiency Hum. Genet. 107 4 2000 (Oct) 327 342
4. J.H. Lawson, M. Kalafatis, S. Stram, and K.G. Mann A model for the tissue factor pathway to thrombin: I. An empirical study J. Biol. Chem. 269 37 1994 (Sep 16) 23357 23366
5. T. Tidd, R. Kudaravalli, K. Beaverson, D.M. Dimichele, K.A. High, and E.S. Pollak Two novel mutations identified in the human coagulant protein factor VII gene Thromb. Haemost., Suppl. 1999 467