Ontology highlight
ABSTRACT:
SUBMITTER: Xiang J
PROVIDER: S-EPMC6135992 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Xiang Jingjing J Wang Wei W Qian Chunfeng C Xue Jiangyang J Wang Ting T Li Haibo H Li Hong H
The Journal of international medical research 20180607 9
Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron-exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A35 ...[more]