Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility
Jana Emich, Avinash Gaikwad, Birgit Stallmeyer, Daniela Fietz, Hans‐Christian Schuppe, Manon S. Oud, Sabine Kliesch, Jörg Gromoll, Corinna Friedrich, Frank Tüttelmann
Topics & Concepts
Missense mutationBiologyInfertilityAzoospermiaGeneticsMale infertilityPromoterLuciferaseGeneMutationGene expressionPregnancyTransfectionGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersSperm and Testicular Function