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Article

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.

American journal of human genetics - 1 Oct 1991

Bottema C D, Ketterling R P, Ii S, Yoon H S, Phillips J A, Sommer S S

Abstract excerpt

We report 31 point mutations in the factor IX gene and explore the relationship between the level of evolutionary conservation of an amino acid and the probability of a mutation causing hemophilia B. From our total sample of 125 hemophiliacs and from those reported by others, we identify 95 independent missense mutations, 94 of which occur at amino acids that are evolutionarily conserved in the available...

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Identifiers

PMID: 1680287
PMCID: PMC1683179

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Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.PMID 1680287Read ↗

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