Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans an...
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
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Author / Creator
Cong, Jiangshan , Wang, Xiong , Amiri-Yekta, Amir , Wang, Lingbo , Kherraf, Zine-Eddine , Liu, Chunyu , Cazin, Caroline , Tang, Shuyan , Hosseini, Seyedeh Hanieh , Tian, Shixiong , Daneshipour, Abbas , Wang, Jiaxiong , Zhou, Yiling , Zeng, Yuyan , Yang, Shenmin , He, Xiaojin , Li, Jinsong , Cao, Yunxia , Jin, Li , Ray, Pierre F and Zhang, Feng
Publisher
London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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BackgroundOligoasthenoteratozoospermia is a typical feature of sperm malformations leading to male infertility. Only a few genes have been clearly identified as pathogenic genes of oligoasthenoteratozoospermia.Methods and resultsHere, we identified a homozygous frameshift variant (c.731dup, p.Asn244Lysfs*3) in CCDC34, which is preferentially expres...
Alternative Titles
Full title
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Authors, Artists and Contributors
Author / Creator
Wang, Xiong
Amiri-Yekta, Amir
Wang, Lingbo
Kherraf, Zine-Eddine
Liu, Chunyu
Cazin, Caroline
Tang, Shuyan
Hosseini, Seyedeh Hanieh
Tian, Shixiong
Daneshipour, Abbas
Wang, Jiaxiong
Zhou, Yiling
Zeng, Yuyan
Yang, Shenmin
He, Xiaojin
Li, Jinsong
Cao, Yunxia
Jin, Li
Ray, Pierre F
Zhang, Feng
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Record Identifier
TN_cdi_proquest_miscellaneous_2558450966
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2558450966
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107919
