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- YGLAND, EMILLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups (author)
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
- Article/chapterEnglish2014
Publisher, publication year, extent ...
- Elsevier BV,2014
- electronicrdacarrier
Numbers
- LIBRIS-ID:oai:lup.lub.lu.se:0589cb48-1c6b-479a-900f-57aca18baffa
- https://lup.lub.lu.se/record/4455400URI
- https://doi.org/10.1016/j.parkreldis.2014.04.018DOI
Supplementary language notes
- Language:English
- Summary in:English
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- SwePubSwePub
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Notes
- Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).
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- Taroni, Franco (author)
- Gellera, Cinzia (author)
- Caldarazzo, Serena (author)
- Duno, MortenUniversity of Copenhagen (author)
- Soller, MariaLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-mso (author)
- Puschmann, AndreasLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups(Swepub:lu)med-aps (author)
- Neurologi, LundSektion IV (creator_code:org_t)
Related titles
- In:Parkinsonism & Related Disorders: Elsevier BV20:8, s. 919-9231873-51261353-8020
Internet link
- https://portal.research.lu.se/files/1430847/5152926.pdfFULLTEXT
- http://www.ncbi.nlm.nih.gov/pubmed/24816001?dopt=AbstractFULLTEXT
- http://dx.doi.org/10.1016/j.parkreldis.2014.04.018FULLTEXT
- https://lup.lub.lu.se/search/files/1430847/5152926.pdf
- https://lup.lub.lu.se/record/4455400
- https://doi.org/10.1016/j.parkreldis.2014.04.018
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