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Article

Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.

Parkinsonism & related disorders - 1 Apr 2018

Bentley Steven R, Bortnick Stephanie, Guella Ilaria, Fowdar Javed Y, Silburn Peter A, Wood Stephen A, Farrer Matthew J, Mellick George D

Abstract excerpt

INTRODUCTION: Family based study designs provide an informative resource to identify disease-causing mutations. The Queensland Parkinson's Project (QPP) has been involved in numerous genetic screening studies; however, details of the families enrolled into the register have not been comprehensively reported. This article characterises the families enrolled in the QPP and summarises monogenic forms of hereditary...

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PMID: 29329938
DOI: 10.1016/j.parkreldis.2017.12.033

Genes

SNCA
VPS35

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