Literature DB >> 9452121

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

A Yamaguchi1, A Matsuura, S Arashima, Y Kikuchi, K Kikuchi.   

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Year:  1998        PMID： 9452121     DOI： 10.1002/humu.13801101100

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


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  5 in total

1.  Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.

Authors:  Kazuhiro Ohya; Wataru Abo; Hisamitsu Tamaki; Chieko Sugawara; Tetsuya Endo; Shosuke Nomachi; Masaru Fukushi; Miyuki Kinebuchi; Akihiro Matsuura
Journal:  Eur J Pediatr       Date:  2002-02       Impact factor: 3.183

2.  Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

Authors:  T Ohura; D Abukawa; H Shiraishi; A Yamaguchi; S Arashima; S Hiyamuta; K Tada; K Iinuma
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

3.  Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.

Authors:  Roman G Efremov; Yuri A Kosinsky; Dmitry E Nolde; Ruslan Tsivkovskii; Alexander S Arseniev; Svetlana Lutsenko
Journal:  Biochem J       Date:  2004-08-15       Impact factor: 3.857

4.  Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

Authors:  Shaojuan Gu; Huarong Yang; Yong Qi; Xiong Deng; Le Zhang; Yi Guo; Qing Huang; Jing Li; Xiaoliu Shi; Zhi Song; Hao Deng
Journal:  PLoS One       Date:  2013-07-02       Impact factor: 3.240

5.  Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.

Authors:  Jung Ok Shim; Hye Ran Yang; Jin Soo Moon; Ju Young Chang; Jae Sung Ko; Sung Sup Park; Jeong Kee Seo
Journal:  J Korean Med Sci       Date:  2018-05-16       Impact factor: 2.153
  5 in total

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