Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients-Reference-Cited by-同舟云学术

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

Published:2021-10-13 Issue: Volume: Page:
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Chaudhuri Jasodhara^ORCID,Biswas Samar,Gangopadhyay Goutam,Biswas Tamoghna,Datta Jyotishka,Biswas Atanu,Pandit Alak,Datta Amlan Kusum,Mukherjee Adreesh,Dutta Atanu Kumar,Bhattacharya Paramita,Hazra Avijit

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s13760-021-01816-w.pdf

Reference23 articles.

1. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9(2):210e7

2. Barada K, Nemer G, ElHajj II, Touma J, Cortas N, Boustany RM et al (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson’s disease. Clin Genet 72(3):264e7

3. Huster D, Kuhne A, Bhattacharjee A et al (2012) Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology 142(4):947-956. e5

4. Sternlieb I (1990) Perspectives on Wilson’s disease. Hepatology 12:1234–1239

5. Aggarwal A, Aggarwal N, Nagral A, Jankharia G, Bhatt M (2009) A novel Global assessment scale for Wilson’s disease (GAS for WD). Mov Disord 24(4):509e18

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