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Article

Identification of mutations in two families with sporadic hemophilia A.

Human genetics - 1 Aug 1991

Paynton C, Sarkar G, Sommer S S

Abstract excerpt

Direct sequencing of segments of the factor VIII gene in 30 hemophiliacs with sporadic disease (32+ kb of sequence in total) revealed two missense transitions: glutamate 1704 to lysine (E1704----K) in a patient with severe hemophilia A and proline 2300 to serine (P2300----S) in a patient with mild hemophilia. Both transitions are likely to be causative mutations because the amino acids affected were...

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Identifiers

PMID: 1908817
DOI: 10.1007/BF00197155

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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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