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The actinin family of actin cross-linking proteins – a genetic perspective

25 Aug 2015

Abstract excerpt

Actinins are one of the major actin cross-linking proteins found in virtually all cell types and are the ancestral proteins of a larger family that includes spectrin, dystrophin and utrophin. Invertebrates have a single actinin-encoding ACTN gene, while mammals have four. Mutations in all four human genes have now been linked to heritable diseases or traits. ACTN1 mutations cause macrothrombocytopenia, a platelet...

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PMID: 26312134
DOI: 10.1186/s13578-015-0029-7

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