Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications-Reference-Cited by-同舟云学术

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications

Published:2018-09-16 Issue:12 Volume:39 Page:1926-1941
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kumari Niti¹,Kumar Aman¹,Thapa Babu Ram²,Modi Manish³,Pal Arnab¹,Prasad Rajendra¹^ORCID

Affiliation:

1. Department of Biochemistry; PGIMER; Chandigarh India

2. Department of Paediatrics Gastroenterology; PGIMER; Chandigarh India

3. Department of Neurology; PGIMER; Chandigarh India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23614/fullpdf

Reference64 articles.

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3. Wilson disease mutation pattern with genotype-phenotype correlations from western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations;Aggarwal;Annals of Human Genetics,2013

4. SWISS-MODEL: Modelling protein tertiary and quaternary structure using evolutionary information;Biasini;Nucleic Acids Research,2014

5. Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B;Braiterman;Proceedings of the National Academy of Sciences of the United States of America,2014

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