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A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.
Liu, Xiaoqi; Wu, Yaqi; Miao, Zequn; Zhang, Houbin; Gong, Bo; Zhu, Xianjun; Huang, Lulin; Shi, Yi; Hao, Fang; Ma, Shi; Lin, He; Wang, Lejin; Yang, Zhenglin.
Affiliation
  • Liu X; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Wu Y; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Miao Z; c School of Materials Science and Engineering , Southwest Jiaotong University , Chengdu , Sichuan , China.
  • Zhang H; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Gong B; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Zhu X; d Department of Ophthalmology, Key Laboratory of Vision Loss and Restoration, Ministry of Education , Peking University People's Hospital , Beijing , China.
  • Huang L; e Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases , Beijing , China.
  • Shi Y; f College of Optometry , Peking University Health Science Center , Beijing , China.
  • Hao F; g Center of Optometry , Peking University People's Hospital , Beijing , China.
  • Ma S; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Lin H; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Wang L; a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
  • Yang Z; b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.
Ophthalmic Genet ; 39(4): 428-436, 2018 08.
Article in En | MEDLINE | ID: mdl-29902091
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Sequence Deletion / Asian People / PAX6 Transcription Factor Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: China Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Sequence Deletion / Asian People / PAX6 Transcription Factor Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: China Country of publication: United kingdom