Literature DB >> 20421802

Genotype-phenotype correlation in Wilson disease.

Simon Horslen, Si Houn Hahn.   

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Year:  2010        PMID: 20421802     DOI: 10.1097/MCG.0b013e3181d96ac4

Source DB:  PubMed          Journal:  J Clin Gastroenterol        ISSN: 0192-0790            Impact factor:   3.062


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  6 in total

1.  Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.

Authors:  Julnar Usta; Hussein Abu Daya; Houssam Halawi; Ibraheem Al-Shareef; Omar El-Rifai; Ahmad H Malli; Ala I Sharara; Robert H Habib; Kassem Barada
Journal:  JIMD Rep       Date:  2011-11-08

2.  Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.

Authors:  Stephanie Materia; Michael A Cater; Leo W J Klomp; Julian F B Mercer; Sharon La Fontaine
Journal:  J Biol Chem       Date:  2011-11-30       Impact factor: 5.157

Review 3.  Modifying factors and phenotypic diversity in Wilson's disease.

Authors:  Svetlana Lutsenko
Journal:  Ann N Y Acad Sci       Date:  2014-04-04       Impact factor: 5.691

4.  Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation.

Authors:  Claude Hercend; Cyril Bauvais; Guillaume Bollot; Nicolas Delacotte; Philippe Chappuis; France Woimant; Jean-Marie Launay; Philippe Manivet
Journal:  PLoS One       Date:  2011-10-27       Impact factor: 3.240

Review 5.  Disorders of metal metabolism.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-12-18

6.  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

  6 in total

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