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The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
Feng, Xue; Wei, Tianying; Sun, Junhui; Luo, Yuqin; Huo, Yanan; Yu, Ping; Chen, Jiao; Wei, Xiaoming; Qi, Ming; Ye, Yinghui.
Affiliation
  • Feng X; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Wei T; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Sun J; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Luo Y; Department of Reproductive Genetics, Women's Hospital, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Huo Y; Department of Eye Center, The Second Affiliated Hospital of School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Yu P; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Chen J; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Wei X; BGI-Wuhan, Wuhan, China.
  • Qi M; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
  • Ye Y; Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics, Ministry of Education, and Women's Reproductive Health Laboratory of Zhejiang Province, Women's Hospital School of Medicine Zhejiang University, Hangzhou, Zhejiang, China.
PLoS One ; 15(4): e0231115, 2020.
Article in En | MEDLINE | ID: mdl-32255808
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cyclic GMP / Receptors, Cell Surface / Leber Congenital Amaurosis / Guanylate Cyclase Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2020 Document type: Article Affiliation country: China Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cyclic GMP / Receptors, Cell Surface / Leber Congenital Amaurosis / Guanylate Cyclase Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2020 Document type: Article Affiliation country: China Country of publication: Estados Unidos