(Q48795124)

English

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

scientific article published on 28 October 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

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

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

0 references

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

A Gupta

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

D Aikath

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

R Neogi

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

S Datta

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

K Basu

5

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

B Maity

6

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

R Trivedi

7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

J Ray

8

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

S K Das

9

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

P K Gangopadhyay

10

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

K Ray

11

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

publication date

28 October 2005

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

118

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

49-57

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

https://scigraph.springernature.com/pub.10.1007/s00439-005-0007-y

0 references

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-0007-Y

21 January 2018

Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-0007-Y

21 January 2018

Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-0007-Y

21 January 2018

Perspectives on Wilson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wilson's disease--early onset and lessons from a pediatric cohort in India

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wilson disease gene: spectrum of mutations and their consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wilson's disease in young children from northern India

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of Wilson disease mutations in Britain

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype and mutation analysis in Japanese patients with Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient detection of mutations in Wilson disease by manifold sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype studies in Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotypes and mutations in Wilson disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA linkage based diagnosis of Wilson disease in asymptomatic siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/16133174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-0007-Y

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/16133174

ResearchGate publication ID

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