Novel Biallelic

Autor: Hua-Ying, Hu, Tian-Ying, Wei, Zhan-Ke, Feng, Song-Jun, Li, Rong, Zhao, Xiao-Ling, Yi, Ti-Ling, Hu, Huan, Zhao, Cun-Xi, Li, Zu-Guo, Liu
Rok vydání: 2021
Předmět:
Zdroj: DNA and cell biology. 40(6)
ISSN: 1557-7430
Popis: Sperm motility is vital to human reproduction, and malformed sperm flagella can cause male infertility. Individuals with multiple morphological abnormalities of the flagella mostly have absent, short, coiled, bent, and/or irregular-caliber flagella. In this study, a patient with male infertility underwent a physical examination along with his wife. Genetic testing was performed by whole-exome sequencing of the couple, and Sanger sequencing was performed for validation. Novel biallelic variations in the
Databáze: OpenAIRE