Article
[Identification of nonmuscle mysin heavy chain 9 gene mutation in a May-Hegglin anomaly family].
Zhonghua yi xue za zhi - 1 Jul 2002
Zhang Guangsen, Yi Yan, Xu Min, Ling Zhusan
Abstract excerpt
OBJECTIVE: To describe the clinical phenotype and identify the nonmuscle myosin heavy chain 9 (MYH9) gene mutation in the first May-Hegglin anomaly family in China. METHODS: The exons 25, 31 approximately 32 38 and 40 in the MYH9 gene of the proband and her affected father were amplified with polymerase chain reaction, and the PCR products were sequenced. After the specific point mutation in exon 38 was...
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