A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

Marguerite Evans-Galea, Louise Corben, Justin Hasell, Charles Galea, Michael Fahey, Desiree Du Sart, Martin Delatycki

Research output: Contribution to journalArticleResearchpeer-review

Original languageEnglish
Pages (from-to)307 - 313
Number of pages7
JournalNeurogenetics
Volume12
Issue number4
DOIs
Publication statusPublished - 2011

Cite this

@article{db652373b24747d486c71dc905de2dfa,
title = "A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype",
author = "Marguerite Evans-Galea and Louise Corben and Justin Hasell and Charles Galea and Michael Fahey and {Du Sart}, Desiree and Martin Delatycki",
year = "2011",
doi = "10.1007/s10048-011-0296-3",
language = "English",
volume = "12",
pages = "307 -- 313",
journal = "Neurogenetics",
issn = "1364-6745",
publisher = "Springer-Verlag London Ltd.",
number = "4",

}

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. / Evans-Galea, Marguerite; Corben, Louise; Hasell, Justin; Galea, Charles; Fahey, Michael; Du Sart, Desiree; Delatycki, Martin.

In: Neurogenetics, Vol. 12, No. 4, 2011, p. 307 - 313.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

AU - Evans-Galea, Marguerite

AU - Corben, Louise

AU - Hasell, Justin

AU - Galea, Charles

AU - Fahey, Michael

AU - Du Sart, Desiree

AU - Delatycki, Martin

PY - 2011

Y1 - 2011

UR - http://www.springerlink.com/content/awk3318335337882/fulltext.pdf

U2 - 10.1007/s10048-011-0296-3

DO - 10.1007/s10048-011-0296-3

M3 - Article

VL - 12

SP - 307

EP - 313

JO - Neurogenetics

JF - Neurogenetics

SN - 1364-6745

IS - 4

ER -