Article
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
European journal of medical genetics - 1 Jan 2000
De Rocco Daniela, Pujol-Moix Nuria, Pecci Alessandro, Faletra Flavio, Bozzi Valeria, Balduini Carlo L, Savoia Anna
Abstract excerpt
MYH9-related disease (MYH9RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. The spectrum of...
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