Literature DB >> 15836726

Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.

Rajendra Prasad, Gurjit Kaur, Sandeep Kumar, Babu Ram Thapa.   

Abstract

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Year:  2005        PMID： 15836726     DOI： 10.1111/j.1440-1746.2005.03781.x

Source DB:  PubMed          Journal:  J Gastroenterol Hepatol        ISSN： 0815-9319            Impact factor:   4.029


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  3 in total

1.  Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

Authors:  Sandeep Kumar; Baburam Thapa; Gurjit Kaur; Rajendra Prasad
Journal:  Mol Cell Biochem       Date:  2006-12-08       Impact factor: 3.396

2.  Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Authors:  Arnab Gupta; Ishita Chattopadhyay; Sumit Dey; Poonam Nasipuri; Shyamal K Das; Prasanta K Gangopadhyay; Kunal Ray
Journal:  Cell Mol Neurobiol       Date:  2007-09-02       Impact factor: 5.046

3.  Evaluation of copper toxicity in isolated human peripheral blood mononuclear cells and it's attenuation by zinc: ex vivo.

Authors:  Rashim Pal Singh; Sandeep Kumar; Ritambra Nada; Rajendra Prasad
Journal:  Mol Cell Biochem       Date:  2006-01       Impact factor: 3.842
  3 in total

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