Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a serie...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	Human molecular genetics Ročník 17; číslo 13; s. 1988
Hlavní autori:	Simón-Sánchez, Javier, Singleton, Andrew B
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 01.07.2008
Predmet:	Adolescent Adult Age of Onset Aged Aged, 80 and over Cohort Studies Female High-Temperature Requirement A Serine Peptidase 2 Humans Male Middle Aged Mitochondrial Proteins - genetics Mutation Parkinson Disease - genetics Polymorphism, Single Nucleotide Sequence Analysis, DNA Serine Endopeptidases - genetics
ISSN:	1460-2083, 1460-2083
On-line prístup:	Zistit podrobnosti o prístupe
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Buďte prvý, kto okomentuje tento záznam!