A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant wit...
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Published in | Nature genetics Vol. 40; no. 4; pp. 387 - 389 |
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Main Authors | , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Nature Publishing Group US
01.04.2008
Nature Publishing Group |
Subjects | |
Online Access | Get full text |
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