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A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Yang, Yan; Tang, Nie; Zhu, Ying; Zhang, Lei; Cao, Xu; Liu, Limei; Xia, Wei; Li, Pengqiu; Yang, Yi.
Affiliation
  • Yang Y; Department of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
  • Tang N; Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, 610072, Chengdu, China.
  • Zhu Y; Department of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
  • Zhang L; Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, 610072, Chengdu, China.
  • Cao X; Department of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
  • Liu L; Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, 610072, Chengdu, China.
  • Xia W; Department of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
  • Li P; Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, 610072, Chengdu, China.
  • Yang Y; Department of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Metab Brain Dis ; 36(4): 589-599, 2021 04.
Article in En | MEDLINE | ID: mdl-33555497
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Carbonic Anhydrase II / Asian People / Homozygote Type of study: Prognostic_studies / Screening_studies Limits: Adult / Humans / Male Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Codon, Nonsense / Carbonic Anhydrase II / Asian People / Homozygote Type of study: Prognostic_studies / Screening_studies Limits: Adult / Humans / Male Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: China