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.
Vol. 91 No. 7 (2006): July, 2006 : Case Reports
Published By
Ferrata Storti Foundation, Pavia, Italy
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