|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis.
|
24878384 |
2014 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast to direct DNA sequencing, direct mutation detection by using allele-specific probes is rapid and clinically very helpful, if a mutation occurs with a reasonable frequency in the population (ie, H1069Q in European WD patients or R778L in WD patients from the Far East).
|
16233999 |
2005 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles.
|
23275100 |
2013 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The allele frequency of R778L in Korean patients with Wilson disease was 37.9%, which was significantly higher than those of Japanese and Taiwanese patients.
|
12544487 |
2003 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.
|
17160357 |
2007 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Taken together, we have provided further evidence that the His1069Gln mutation is the prevalent ATP7B mutation in central-european WD patients.
|
17660582 |
2007 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation.
|
9887381 |
1999 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
R778L mutation is mostly observed in Chinese, Japanese and Korean patients, whereas the H1069Q point mutation in the ATP7B gene is the most frequent mutation in European patients with WD.
|
16310588 |
2005 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
|
15519648 |
2004 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results open the way to attempt developing a pharmacologically active peptide to specifically contrast the Wilson disease form caused by the ATP7B-H1069Q mutant.
|
29954118 |
2018 |