Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations. - Wikidata - wikimedia - TriplyDB

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

http://www.wikidata.org/entity/Q35549433

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Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach Genomic instability in the PARK2 locus is associated with Parkinson's disease.Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.SUMO and Parkinson's disease.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

P2860

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P2860

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

http://www.wikidata.org/entity/Q35549433

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Breakpoint mapping of 13 large ...... lication as founder mutations.

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Breakpoint mapping of 13 large ...... lication as founder mutations.

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Breakpoint mapping of 13 large ...... lication as founder mutations.

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Breakpoint mapping of 13 large ...... lication as founder mutations.

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Breakpoint mapping of 13 large ...... lication as founder mutations.

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Breakpoint mapping of 13 large ...... lication as founder mutations.

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Ad Hovestadt

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Agnita J W Boon

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Bart P C van de Warrenburg

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Corien C Verschuuren-Bemelmans

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Klaartje van Engelen

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Klaus L Leenders

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P2860

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

Association between early-onset Parkinson's disease and mutations in the parkin gene

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Common fragile sites, extremely large genes, neural development and cancer.

Distribution, type, and origin of Parkin mutations: review and case studies.

Parkin-associated Parkinson's disease.

Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

A real-time polymerase chain reaction assay for rapid, sensitive, and specific quantification of the JAK2V617F mutation using a locked nucleic acid-modified oligonucleotide.

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