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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...

Topics

Factor IX
Hemophilia B
Humans
Mutation
White People

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1601420
DOI: 10.1007/BF00220543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1601420-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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

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