Mutation Profile in Wilson’s Disease from North Indian Patients-Reference-Cited by-同舟云学术

Mutation Profile in Wilson’s Disease from North Indian Patients

Published:2012-06 Issue:2 Volume:12 Page:125-132
ISSN:0972-3757
Container-title:International Journal of Human Genetics
language:en
Short-container-title:International Journal of Human Genetics

Author:

Khan S.¹,Behari M.¹,Vivekanandhan S.²,Goyal V.¹,Thelma B.K.³

Affiliation:

1. Department of Neurology, All India Institute of Medical Sciences, New Delhi, India

2. Department of Neurobiochemistry, All India Institute of Medical Sciences, New Delhi, India

3. Department of Genetics, Delhi University, South Campus, New Delhi, India

Publisher

Kamla Raj Enterprises

Subject

Genetics (clinical),Genetics

Link

https://www.tandfonline.com/doi/pdf/10.1080/09723757.2012.11886173

Reference7 articles.

1. Bhasin MK 2009. Morphology to molecular anthropology: Castes and tribes of India.Int J Hum Genet, 9(3-4): 145–230.

2. Cox DW, Roberts E 1999. Wilson’s Disease. In: RA Pagon, TD Bird, CR Dolan, K Stephens (Eds.):Gene Reviews. Seattle (WA): University of Washington, Seattle.

3. Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das SK, Gangopadhyay PK, Ray K et al. 2005. Molecular pathogenesis of Wilson disease: Haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.Hum Genet, 118 (1): 49-57.

4. Gupta A, Chattopadhyay I, Dey S, Nasipuri P, Das SK, Gangopadhyay PK, Ray K et al. 2007. Molecular pathogenesis of Wilson disease among Indians: A perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.Cell Mol Neurobiol, 27 (8): 1023-33.

5. Kumar S, Thapa BR, Kaur G, Prasad R 2005. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: Genotype.Clin Genet, 67 (5): 443–445.

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1. Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease;Indian Journal of Pediatrics;2022-09-16

2. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease;PLOS ONE;2019-05-06

3. Novel mutations of ATP7B gene in Wilson's disease patients of South Indian cohort;Meta Gene;2017-12

4. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort;Gene;2015-09