rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
|
31783295 |
2019 |
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
|
27982432 |
2017 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
|
18652531 |
2008 |
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
|
8782057 |
1996 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
|
21593220 |
2011 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
|
9554743 |
1998 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
There is a correlation between R778L and hepatic manifestations in WD patient.
|
14966923 |
2004 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
|
10453196 |
1999 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%.
|
17587212 |
2007 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS.
|
31010795 |
2020 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%.
|
17587212 |
2007 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
|
24094725 |
2014 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
[Mutation analysis of 35 Wilson's disease pedigrees].
|
26829729 |
2016 |