Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

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http://www.wikidata.org/entity/Q48103343
Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneityLinkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.Genetics of Wilson's disease: a clinical perspective.Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.IGVBrowser--a genomic variation resource from diverse Indian populations.Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.ATP7B variants as modulators of copper dyshomeostasis in Alzheimer's disease.Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.Non-ceruloplasmin bound copper and ATP7B gene variants in Alzheimer's disease.Non-Ceruloplasmin Copper Distincts Subtypes in Alzheimer's Disease: a Genetic Study of ATP7B Frequency.Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.
P2860

Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

Item
http://www.wikidata.org/entity/Q48103343
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@en
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@nl
type
label
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@en
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@nl
prefLabel
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@en
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Molecular diagnosis of Wilson ...... cleotide polymorphism markers.
@en
P2093
P304
P31
P356
10.1373/CLINCHEM.2007.086066
P407
P433
P478
P50
P577
P5875
P698
P921