A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Open Access

Peer-reviewed

Research Article

Wufang Fan ,

Contributed equally to this work with: Wufang Fan, Bei Wang

* E-mail: wfan6888@yahoo.com (WF); lilinxy1996@163.com (LL)

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Bei Wang ,

Contributed equally to this work with: Wufang Fan, Bei Wang

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Shanshan He,

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Tengfei Zhang,

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Chenxing Yin,

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Yunping Chen,

Affiliation Hebei University School of Life Sciences, Baoding, Hebei, China
⨯
Shuqi Zheng,

Affiliation Institute of Medical Genetics, Linyi People’s Hospital, Shandong, China
⨯
Jixia Zhang,

Affiliation Institute of Medical Genetics, Linyi People’s Hospital, Shandong, China
⨯
Lin Li

* E-mail: wfan6888@yahoo.com (WF); lilinxy1996@163.com (LL)

Affiliation Institute of Medical Genetics, Linyi People’s Hospital, Shandong, China
⨯

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Nonsense mutation
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Point mutation
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Frameshift mutation
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Missense mutation
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Mutation
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DNA sequencing
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Hydrogen bonding
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Mutation detection
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