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

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 re...

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Veröffentlicht in:	Human genetics 1992-05, Vol.89 (3), p.295-297
Hauptverfasser:	SOMMER, S. S, BOWIE, E. J. W, KETTERLING, R. P, BOTTEMA, C. D. K
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences coagulation factor IX European Continental Ancestry Group - genetics Factor IX - genetics Hematologic and hematopoietic diseases Hemophilia B - diagnosis Hemophilia B - genetics Humans man Medical sciences missense mutant Mutation - genetics
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