|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the present study (i) we firstly observed that ApoE epsilon3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD clinical presentation in Chinese Han children, including those patients homozygous for R778L.
|
16310588 |
2005 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence.
|
18034201 |
2008 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11.
|
25988284 |
2016 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs).
|
29358698 |
2018 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia).
|
15554419 |
2004 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
|
10721669 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations.
|
27706781 |
2016 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.
|
11479773 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
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
|
|
Hepatolenticular Degeneration
|
|
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
|
|
Hepatolenticular Degeneration
|
|
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
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of Wilson disease.
|
11243728 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |