Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.

Item
http://www.wikidata.org/entity/Q34181728
Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachAnalysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's DiseaseHypothesis: somatic mosaicism and Parkinson diseaseα-Synuclein and mitochondrial dysfunction in Parkinson's disease.Parkin and mitophagy in cancer.The M458L missense mutation disrupts the catalytic properties of Parkin.Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease.The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN.Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease
P2860

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.

Item
http://www.wikidata.org/entity/Q34181728
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Phase analysis identifies comp ...... early-onset Parkinson disease.
@ast
Phase analysis identifies comp ...... early-onset Parkinson disease.
@en
Phase analysis identifies comp ...... early-onset Parkinson disease.
@nl
type
label
Phase analysis identifies comp ...... early-onset Parkinson disease.
@ast
Phase analysis identifies comp ...... early-onset Parkinson disease.
@en
Phase analysis identifies comp ...... early-onset Parkinson disease.
@nl
prefLabel
Phase analysis identifies comp ...... early-onset Parkinson disease.
@ast
Phase analysis identifies comp ...... early-onset Parkinson disease.
@en
Phase analysis identifies comp ...... early-onset Parkinson disease.
@nl
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P2093
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P698
P921
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P1476
Phase analysis identifies comp ...... early-onset Parkinson disease.
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10.1111/J.1399-0004.2011.01693.X
P433
P478
P577
P698
P921