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Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients.

Human mutation - 1 Dec 2000

Akkarapatumwong V, Intorasoot S, Oranwiroon S, Thano-Otarakul P, Pung-Amritt P, Veerakul G, Mahasandana C, Panyim S, Yenchitsomanus P

Abstract excerpt

Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations (delT3490, delACAC3618-21, delGA4429-30, and delA4658) were found in the patients with the severe clinical...

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PMID: 11102988
DOI: 10.1002/1098-1004(200012)16:6<530::AID-HUMU16>3.0.CO;2-3

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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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