Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

Autor: Innocenza Claudia Cirò Candiano, Aldo Quattrone, Marco D'Amelio, Giuseppe Salemi, Ferdinanda Annesi, Paolo Ragonese, Valeria Terruso, Grazia Annesi, Patrizia Tarantino, Giovanni Savettieri, Donatella Civitelli

Publikováno v: Parkinsonism & related disorders 14 (2008): 509–512. doi:10.1016/j.parkreldis.2007.10.014
info:cnr-pdr/source/autori:Savettieri G; Annesi G; Civitelli D; Cirò Candiano IC; Salemi G; Ragonese P; Annesi F; Tarantino P; Terruso V; D'Amelio M; Quattrone A./titolo:Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease/doi:10.1016%2Fj.parkreldis.2007.10.014/rivista:Parkinsonism & related disorders/anno:2008/pagina_da:509/pagina_a:512/intervallo_pagine:509–512/volume:14

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef9e895b3a9ebb637d6ef1dc1d7ef749
https://doi.org/10.1016/j.parkreldis.2007.10.014