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Article

A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.

Human reproduction (Oxford, England) - 28 Apr 2020

Yuan Peng, Yang Cen, Ren Yixin, Yan Jie, Nie Yanli, Yan Liying, Qiao Jie

Abstract excerpt

STUDY QUESTION: Is a novel homozygous phospholipase C zeta (PLCζ), c.1658 G>C; p. R553P mutation in the C2 domain associated with the outcomes of recurrent fertilization failure after ICSI? SUMMARY ANSWER: PLCζ, c.1658 G>C led to defective human oocyte activation and fertilization failure, while this mutation in the C2 domain of PLCζ did not compromise concentration, motility and chromosome ploidy of sperm. WHAT...

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PMID: 32142120
DOI: 10.1093/humrep/dez293

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