Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
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Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scansIRAK-M is involved in the pathogenesis of early-onset persistent asthmaHGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationshipsGenotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneityGenetics of consanguinity and inbreeding in health and disease.Heritability of cardiovascular and personality traits in 6,148 SardiniansPhenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.Review article: diagnosis and current therapy of Wilson's disease.Wilson's disease: clinical, genetic and pharmacological findings.Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.Quality of Life and Psychiatric Symptoms in Wilson's Disease: the Relevance of Bipolar DisordersWilson's disease: A review of what we have learned.Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.A genetic study of Wilson's disease in the United KingdomMutational analysis of ATP7B in Chinese Wilson disease patientsUpdate on the clinical management of Wilson's disease.Geographic distribution of ATP7B mutations in Wilson disease.Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.Psychiatric comorbidity in Wilson's disease.Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.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.
P2860
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P2860
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Molecular characterization of ...... -evidence of a founder effect.
@en
Molecular characterization of ...... -evidence of a founder effect.
@nl
type
label
Molecular characterization of ...... -evidence of a founder effect.
@en
Molecular characterization of ...... -evidence of a founder effect.
@nl
prefLabel
Molecular characterization of ...... -evidence of a founder effect.
@en
Molecular characterization of ...... -evidence of a founder effect.
@nl
P2093
P2860
P1433
P1476
Molecular characterization of ...... -evidence of a founder effect.
@en
P2093
A M Nurchi
G Loudianos
S De Virgiliis
P2860
P304
P356
10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9
P50
P577
1999-01-01T00:00:00Z