Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency
Tianliu Peng, Chao Lv, Hang-Jing Tan, Jiafeng Huang, Hailun He, Yan Wang, Ming‐Hua Zeng, Da-Jing Yi, Jie Li, Hong‐Wen Deng, Xiaobo Shi, Hong‐Mei Xiao
Topics & Concepts
Premature ovarian insufficiencyMissense mutationSanger sequencingMutationIn silicoGeneticsExome sequencingBiologyMutantPremature ovarian failureExomeGene mutationGeneMutant proteinBioinformaticsMedicineInternal medicineEndocrinologyGlycosylation and Glycoproteins ResearchMicrotubule and mitosis dynamicsBiological Research and Disease Studies