Literature DB >> 15811015

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

S Kumar, B R Thapa, G Kaur, R Prasad.   

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Year:  2005        PMID： 15811015     DOI： 10.1111/j.1399-0004.2005.00440.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

Review 1.  Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Authors:  Peter Ferenci
Journal:  Hum Genet       Date:  2006-06-22       Impact factor: 4.132

2.  Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

Authors:  A Gupta; D Aikath; R Neogi; S Datta; K Basu; B Maity; R Trivedi; J Ray; S K Das; P K Gangopadhyay; K Ray
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

3.  New Horizons in Correction of Mutated ATP7B in Wilson Disease Using Pharmacological Agents: Precise Medicine.

Authors:  Rajendra Prasad
Journal:  Indian J Clin Biochem       Date:  2019-10-16

4.  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

5.  Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.

Authors:  Jasodhara Chaudhuri; Samar Biswas; Goutam Gangopadhyay; Tamoghna Biswas; Jyotishka Datta; Atanu Biswas; Alak Pandit; Amlan Kusum Datta; Adreesh Mukherjee; Atanu Kumar Dutta; Paramita Bhattacharya; Avijit Hazra
Journal:  Acta Neurol Belg       Date:  2021-10-13       Impact factor: 2.396

6.  Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study.

Authors:  Rekha Aaron; Aaron Chapla; Sumita Danda; Uday Zachariah; Chundamannil E Eapen; Ashish Goel
Journal:  J Clin Exp Hepatol       Date:  2021-08-06

7.  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

Review 8.  Genetics of Wilson's disease: a clinical perspective.

Authors:  S Suresh Kumar; George Kurian; C E Eapen; Eve A Roberts
Journal:  Indian J Gastroenterol       Date:  2012-09-01

Review 9.  The Pragmatic Treatment of Wilson's Disease.

Authors:  Annu Aggarwal; Mohit Bhatt
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

10.  Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review.

Authors:  Valeria Di Stefano; Elena Lionetti; Novella Rotolo; Mario La Rosa; Salvatore Leonardi
Journal:  Hepat Mon       Date:  2012-08-25       Impact factor: 0.660
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