Literature DB >> 9143915

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

P Y Hu1, E J Lim, J Ciccolella, P Strisciuglio, W S Sly.   

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Year:  1997        PMID： 9143915     DOI： 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 in total

1.  Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.

Authors:  Qianqian Pang; Xuan Qi; Yan Jiang; Ou Wang; Mei Li; Xiaoping Xing; Jin Dong; Weibo Xia
Journal:  Metab Brain Dis       Date:  2015-02-27       Impact factor: 3.584

2.  A Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder.

Authors:  Birim Günay Kiliç; Çağatay Uğur; Nagihan Saday Duman; Melda Akçakin
Journal:  Noro Psikiyatr Ars       Date:  2014-06-01       Impact factor: 1.339

3.  Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

Authors:  Danny Lotan; Arik Eisenkraft; Jeffrey M Jacobsson; Omer Bar-Yosef; Robert Kleta; Nurit Gal; Lisa Raviv-Zilka; Hagar Gore; Yair Anikster
Journal:  Pediatr Nephrol       Date:  2005-12-29       Impact factor: 3.714

4.  Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

Authors:  Amit Kumar Satapathy; Swati Pandey; Madhumita Roy Chaudhary; Arvind Bagga; Madhulika Kabra; Kornak Uwe; Neerja Gupta
Journal:  J Pediatr Genet       Date:  2018-11-18

5.  Impact of the 237th residue on the folding of human carbonic anhydrase II.

Authors:  Ming-Jie Wu; Yan Jiang; Yong-Bin Yan
Journal:  Int J Mol Sci       Date:  2011-04-28       Impact factor: 5.923

Review 6.  Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies.

Authors:  Syed K Haque; Gema Ariceta; Daniel Batlle
Journal:  Nephrol Dial Transplant       Date:  2012-12       Impact factor: 5.992
  6 in total

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