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<i>SEPT12</i>mutations cause male infertility with defective sperm annulus

20 Jan 2012

Abstract excerpt

Septins are members of the GTPase superfamily, which has been implicated in diverse cellular functions including cytokinesis and morphogenesis. Septin 12 (SEPT12) is a testis-specific gene critical for the terminal differentiation of male germ cells. We report the identification of two missense SEPT12 mutations, c.266C>T/p.Thr89Met and c.589G>A/p.Asp197Asn, in infertile men. Both mutations are located inside the...

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PMID: 22275165
DOI: 10.1002/humu.22028

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<i>SEPT12</i>mutations cause male infertility with defective sperm annulusPMID 22275165Read ↗

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