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Description of a novel mutation leading to MYH9-related disease

✍ Scribed by Rachel A. Burt; Joanne E. Joseph; Sam Milliken; Janelle E. Collinge; Benjamin T. Kile

Book ID: 116913938
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 303 KB
Volume: 122
Category: Article
ISSN: 0049-3848
DOI: 10.1016/j.thromres.2008.06.011

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## Communicated by Henrik Dahl MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them