Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
about
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesIn silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.Fine motor skills disorders in the course of Wilson's disease.The plant decapeptide OSIP108 prevents copper-induced apoptosis in yeast and human cellsWilson's disease in southern Brazil: a 40-year follow-up studySystems biology approach to Wilson's diseaseAlterations of lipid metabolism in Wilson disease.Wilson's disease and other neurological copper disorders.The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell lineClinical presentation and mutations in Danish patients with Wilson disease.Communication between the N and C termini is required for copper-stimulated Ser/Thr phosphorylation of Cu(I)-ATPase (ATP7B).Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Currently Clinical Views on Genetics of Wilson's DiseaseA genetic study of Wilson's disease in the United KingdomDeletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.Wilson's Disease and Ulcerative Colitis in the Same Patient: Just A Coincidence? A Case Report and Literature Review.Fetal hypoplastic left heart syndrome and maternal liver transplantation for Wilson's disease: a case report.Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.Sphingolipids and mitochondrial function, lessons learned from yeastTransition metal homeostasis: from yeast to human disease.Geographic distribution of ATP7B mutations in Wilson disease.Copper Capture in a Thioether-Functionalized Porous Polymer Applied to the Detection of Wilson's Disease.The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.The genetics of Wilson disease.The plant decapeptide OSIP108 can alleviate mitochondrial dysfunction induced by cisplatin in human cells.Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function.Mutational analysis of ATP7B in north Chinese patients with Wilson disease.A 6-year-old boy with Wilson disease-A diagnostic dilemma.Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment.Non-ceruloplasmin bound copper and ATP7B gene variants in Alzheimer's disease.Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease.Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.DNA capturing machinery through spore-displayed proteins.Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
P2860
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P2860
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Regional distribution of mutat ...... se: impact on genetic testing.
@ast
Regional distribution of mutat ...... se: impact on genetic testing.
@en
Regional distribution of mutat ...... se: impact on genetic testing.
@nl
type
label
Regional distribution of mutat ...... se: impact on genetic testing.
@ast
Regional distribution of mutat ...... se: impact on genetic testing.
@en
Regional distribution of mutat ...... se: impact on genetic testing.
@nl
prefLabel
Regional distribution of mutat ...... se: impact on genetic testing.
@ast
Regional distribution of mutat ...... se: impact on genetic testing.
@en
Regional distribution of mutat ...... se: impact on genetic testing.
@nl
P1433
P1476
Regional distribution of mutat ...... se: impact on genetic testing.
@en
P2093
Peter Ferenci
P2888
P304
P356
10.1007/S00439-006-0202-5
P577
2006-06-22T00:00:00Z
P6179
1041698186