Haplotype and mutation analysis in Japanese patients with Wilson disease.
about
Animal models of copper-associated liver diseaseFunctional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?Neuropsychiatry of the basal ganglia.Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's diseaseEvidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani FamilyWilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.Wilson's disease: A review of what we have learned.Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.Mutational analysis of ATP7B in Chinese Wilson disease patientsDiagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.Nutritional influences in selected gastrointestinal diseases.Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.The genetics of Wilson disease.Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
P2860
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P2860
Haplotype and mutation analysis in Japanese patients with Wilson disease.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@ast
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@en
type
label
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@ast
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@en
prefLabel
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@ast
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@en
P2093
P2860
P356
P1476
Haplotype and mutation analysis in Japanese patients with Wilson disease.
@en
P2093
Kawasoe JH
Nakajima T
P2860
P304
P356
10.1086/515459
P407
P577
1997-06-01T00:00:00Z