rs121907994
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
rs121907994
|
|
|
0.810 |
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 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
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 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Identification and analysis of mutations of the Wilson disease gene in Chinese population.
|
11775208 |
2000 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
|
10721669 |
2000 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Two families with Wilson disease in which siblings showed different phenotypes.
|
12376745 |
2002 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).
|
12544487 |
2003 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The R778L, N1270S, and A874V mutations are three major mutations representing approximately 60% of mutated alleles, although Korean patients with Wilson disease are genetically heterogeneous.
|
12544487 |
2003 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of ATP7B gene demonstrated that she was homozygous for Ala-874Val mutation, one of the three common mutations in Korean patients with WD.
|
18156766 |
2006 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs121907994
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.
|
19419418 |
2009 |