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Article

Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations.

Clinica chimica acta; international journal of clinical chemistry - 14 Dec 2010

Nair Preethi Satish, Shetty Shrimati, Kulkarni Bipin, Ghosh Kanjaksha

Abstract excerpt

BACKGROUND: The identification of pathogenic mutations in haemophilia A (HA) patients is important as a basis for genetic diagnosis and also for the assessment of clinical manifestations. METHOD: We analyzed 36 inversion negative congenital HA cases (28 unrelated and 8 familial) by multiplex PCR...

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PMID: 20800587
DOI: 10.1016/j.cca.2010.08.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20800587-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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