Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family

ES Ma, CL Wong, TW Shek, SP Hui - Haematologica, 2006 - haematologica.org
ES Ma, CL Wong, TW Shek, SP Hui
Haematologica, 2006haematologica.org
We describe a Chinese family with an MYH9-related disorder in which a novel mutation
V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is
the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of
the disorder.
Abstract
We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of the disorder.
haematologica.org
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