Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.

Abstract excerpt

MYH9 disorders include hereditary macrothrombocytopenias with leukocyte inclusion bodies. Among more than 200 genetically confirmed families, the vast majority of cases exhibit single point mutations including substitutions and deletions of the COOH-terminus in the protein-coding sequence of MYH9. Only four in-frame deletions have been reported to date. In the current study, we describe three in-frame deletions...

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