A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.

Yao, Liangyu; Ge, Yifeng; Du, Tian; Chen, Tong; Ma, Jinzhao; Song, Ninghong

Yao, Liangyu; Ge, Yifeng; Du, Tian; Chen, Tong; Ma, Jinzhao; Song, Ninghong.

Afiliação

Yao L; Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Ge Y; Department of Reproductive Medical Center, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210002, China.
Du T; Department of Reproductive Medical Center, Jinling Hospital, Affiliated Hospital of Medical School, Southeast University, Nanjing, 210002, China.
Chen T; Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Ma J; Department of Reproductive Medical Center, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210002, China. majinzhao07@163.com.
Song N; Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. songninghong_urol@163.com.

J Assist Reprod Genet ; 40(10): 2493-2498, 2023 Oct.

Article em En | MEDLINE | ID: mdl-37574498

Assuntos

Azoospermia; Infertilidade Masculina; Humanos; Masculino; Azoospermia/patologia; Infertilidade Masculina/genética; Mutação/genética; Meiose/genética

Palavras-chave

HFM1; Non-obstructive azoospermia; Splicing variant; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Azoospermia / Infertilidade Masculina Limite: Humans / Male Idioma: En Revista: J Assist Reprod Genet Assunto da revista: GENETICA / MEDICINA REPRODUTIVA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China País de publicação: Holanda

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