Biallelic loss‐of‐function mutations in <i>SEPTIN4</i> ( <i>C17ORF47</i> ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans-Reference-Cited by-同舟云学术

Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans

Published:2022-10-02 Issue:12 Volume:43 Page:2079-2090
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wang Guanxiong¹²³,Zhu Xiaoyu¹²³,Gao Yang¹²³,Lv Mingrong¹²³⁴⁵,Li Kuokuo¹²⁴⁵,Tang Dongdong¹²⁴⁵,Wu Huan¹²⁴⁵,Xu Chuan¹²⁴⁵,Geng Hao¹²³⁴⁵,Shen Qunshan¹²⁶,Zha Xiaomin¹⁴⁵,Duan Zongliu¹⁴⁵,Zhang Jingjing¹⁴⁵,Hua Rong¹²³,Tao Fangbiao²³,Zhou Ping¹²³⁴⁵,Wei Zhaolian¹²³⁴⁵,Cao Yunxia¹²³,Guo Rui¹²³^ORCID,He Xiaojin¹²³⁴⁵^ORCID

Affiliation:

1. Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University Hefei Anhui China

2. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical University Hefei Anhui China

3. Key Laboratory of Population Health Across Life Cycle, Anhui Medical University Ministry of Education of the People's Republic of China Hefei Anhui China

4. Anhui Province Key Laboratory of Reproductive Health and Genetics Hefei Anhui China

5. Anhui Provincial Engineering Research Center of Biopreservation and Artificial Organs Hefei Anhui China

6. Anhui Provincial Human Sperm Bank The First Affiliated Hospital of Anhui Medical University Hefei Anhui China

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24475

Reference45 articles.

1. The sixth edition of the WHO Laboratory Manual for the Examination and Processing of Human Semen: ensuring quality and standardization in basic examination of human ejaculates

2. World Health Organization reference values for human semen characteristics*‡