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Article

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

Genomics - 1 Jan 1990

Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper C K, Kazazian H H, Antonarakis S E

Abstract excerpt

In order to search for mutations resulting in hemophilia A that are not detectable by restriction analysis, three regions of the factor VIII gene were chosen for direct sequence analysis. Short segments of genomic DNA of 127 unrelated patients with hemophilia A were amplified by polymerase chain reaction. A total of 136,017 nucleotides were sequenced, and four mutations leading to the disease were found: a...

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Identifiers

PMID: 2105906
DOI: 10.1016/0888-7543(90)90448-4

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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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