Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
about
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysisA role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian populationClinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.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.Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.The genetics of Wilson disease.Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence
P2860
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P2860
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
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
Mutation analysis in patients ...... ication of 19 novel mutations.
@en
Mutation analysis in patients ...... ication of 19 novel mutations.
@nl
type
label
Mutation analysis in patients ...... ication of 19 novel mutations.
@en
Mutation analysis in patients ...... ication of 19 novel mutations.
@nl
prefLabel
Mutation analysis in patients ...... ication of 19 novel mutations.
@en
Mutation analysis in patients ...... ication of 19 novel mutations.
@nl
P2093
P2860
P1476
Mutation analysis in patients ...... ication of 19 novel mutations.
@en
P2093
Altuntas B
Giacchino R
Loudianos G
P2860
P304
P407
P577
1999-11-01T00:00:00Z