Literature DB >> 7627193

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

H Soda1, S Yukizane, I Yoshida, S Aramaki, H Kato.   

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Year:  1995        PMID： 7627193     DOI： 10.1002/humu.1380050415

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


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  3 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.  Molecular dynamics study of human carbonic anhydrase II in complex with Zn(2+) and acetazolamide on the basis of all-atom force field simulations.

Authors:  Thierry O Wambo; Liao Y Chen; Stanton F McHardy; Andrew T Tsin
Journal:  Biophys Chem       Date:  2016-05-18       Impact factor: 2.352

3.  A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.

Authors:  H Soda; S Yukizane; I Yoshida; Y Koga; S Aramaki; H Kato
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132
  3 in total

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