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Article

Missense mutations and the magnitude of functional deficit: the example of factor IX.

Human genetics - 1 May 1992

Sommer S S, Bowie E J, Ketterling R P, Bottema C D

Abstract excerpt

Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By genetic analysis of patients with hemophilia B of known severity, this question can be addressed...

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PMID: 1601420
DOI: 10.1007/BF00220543

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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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Missense mutations and the magnitude of functional deficit: the example of factor IX.PMID 1601420Read ↗

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