Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong
Topics & Concepts
Frameshift mutationBiologyGeneticsSanger sequencingExome sequencingProbandMutationPhenotypeMale infertilityCompound heterozygosityExomeGeneInfertilityPregnancyRenal and related cancersReproductive Biology and FertilityKruppel-like factors research