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Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2018

Lu Y, Xin Y, Dai J, Wu X, You G, Ding Q, Wu W, Wang X

Abstract excerpt

INTRODUCTION: About 30% of haemophilia A (HA) patients are sporadic cases. It is important to confirm the mutation origin and carrier status in these families. AIM: To describe the spectrum and origin of the mutations in 393 Chinese sporadic HA families and identify potential mosaics among non-carrier mothers. METHODS: AccuCopy quantification combined with long-distance PCR was used for genotyping intron 22/1...

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PMID: 29381227
DOI: 10.1111/hae.13402

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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