Molecular basis of factor X deficiency cases from India

Haemophilia

Volumn 16, Issue 4, 2010, Pages 693-697

  Mota, L ^a   Shetty, S ^a   Idicula Thomas, S ^b   Ghosh, K ^a  

^a KEM HOSPITAL   (India)

^b NATIONAL INSTITUTE FOR RESEARCH IN REPRODUCTIVE HEALTH   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 10 DEFICIENCY; CLINICAL ARTICLE; DISEASE SEVERITY; F10 GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDIA; LETTER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTHROMBIN TIME;

ADULT; AMINO ACIDS, BASIC; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; FACTOR X; FACTOR X DEFICIENCY; FEMALE; HUMANS; INDIA; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 77954844713     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02213.x     Document Type: Letter

References (5)

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4. Isshiki I, Favier R, Moriki T. Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X. Blood Coagul Fibrinolysis 2005, 16:9-16.
5. Deam S, Uprichard J, Eaton JT, Perkins SJ, Dolan G. Factor X Leicester: Ile411Phe associated with a low antigen level and a disproportionately low functional activity of factor X. J Thromb Haemost 2003, 1:603-5.