R171H missense mutation of INSL6 in a patient with spermatogenic failure.

Abstract excerpt

Insulin-like peptide 6 (INSL6) is a newly identified insulin/relaxin family peptide hormone that is predominantly expressed by the male germ cells in testes. A recent murine study demonstrated that INSL6-knockout results in spermatogenic failure. In the present study, human INSL6 gene was screened for mutations that may contribute to human spermatogenic failure. Of 249 patients and 249 healthy control subjects, a...

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