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Article

In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2015

Sengupta M, Sarkar D, Ganguly K, Sengupta D, Bhaskar S, Ray K

Abstract excerpt

Factor VIII (FVIII) mutations cause haemophilia A (HA), an X-linked recessive coagulation disorder. Over 1000 missense mutations in FVIII are known and they lead to variable clinical phenotypes (severe, moderate and mild). The exact molecular basis of this phenotypic heterogeneity by FVIII missense mutations is elusive to date. In this study, we aimed to identify the severity determinants that cause phenotypic...

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PMID: 25854144
DOI: 10.1111/hae.12662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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