A novel mutation in DNAH17 is present in a patient with multiple morphological abnormalities of the flagella
一名患有多种鞭毛形态异常的患者出现 DNAH17 的新突变
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作者：Rui Zheng, Yongkang Sun, Chuan Jiang, Daijuan Chen, Yihong Yang, Ying Shen
Conclusion
Our study revealed a novel homozygous missense mutation in DNAH17 involved in MMAF phenotype. The finding of the novel mutation in DNAH17 enriches the gene variant spectrum of MMAF, further contributing to diagnosis, genetic counselling and prognosis for male infertility.
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