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Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

YGLAND, EMIL LU ; Taroni, Franco; Gellera, Cinzia; Caldarazzo, Serena; Duno, Morten; Soller, Maria LU and Puschmann, Andreas LU (2014) In Parkinsonism & Related Disorders 20(8). p.919-923
Abstract
Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Parkinsonism & Related Disorders
volume
20
issue
8
pages
919 - 923
publisher
Elsevier
external identifiers
  • pmid:24816001
  • wos:000340978600024
  • scopus:84905269570
ISSN
1873-5126
DOI
10.1016/j.parkreldis.2014.04.018
language
English
LU publication?
yes
id
0589cb48-1c6b-479a-900f-57aca18baffa (old id 4455400)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24816001?dopt=Abstract
date added to LUP
2014-06-03 23:12:08
date last changed
2017-01-04 16:14:26
@article{0589cb48-1c6b-479a-900f-57aca18baffa,
  abstract     = {Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).},
  author       = {YGLAND, EMIL and Taroni, Franco and Gellera, Cinzia and Caldarazzo, Serena and Duno, Morten and Soller, Maria and Puschmann, Andreas},
  issn         = {1873-5126},
  language     = {eng},
  number       = {8},
  pages        = {919--923},
  publisher    = {Elsevier},
  series       = {Parkinsonism & Related Disorders},
  title        = {Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.},
  url          = {http://dx.doi.org/10.1016/j.parkreldis.2014.04.018},
  volume       = {20},
  year         = {2014},
}