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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...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Factor VIII
Genetic Carrier Screening
Hemophilia A
Humans
Introns
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 1908817
DOI: 10.1007/BF00197155

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1908817-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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