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Links from Nucleotide

Items: 5

1.
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles
Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis
J Ophthalmol. 2018; 2018: 5706142. Published online 2018 Apr 30. doi: 10.1155/2018/5706142
Correction in:
J Ophthalmol. 2018; 2018: 3039672.
PMCID:
PMC5952432
AbstractArticlePDF–1.2M
2.
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak
PLoS One. 2017; 12(8): e0183866. Published online 2017 Aug 25. doi: 10.1371/journal.pone.0183866
PMCID:
PMC5571936
AbstractArticlePDF–985K
3.
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica
Kamil S. Sitarz, Patrick Yu-Wai-Man, Gavin Hudson, Anu Jacob, Mike Boggild, Rita Horvath, Patrick F. Chinnery
Mult Scler. Author manuscript; available in PMC 2014 Jun 2.
Published in final edited form as: Mult Scler. 2012 Feb; 18(2): 240–243. Published online 2011 Aug 9. doi: 10.1177/1352458511416838
PMCID:
PMC4040403
AbstractArticlePDF–58K
4.
First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation
Smaragda Kamakari, George Koutsodontis, Miltiadis Tsilimbaris, Athanasios Fitsios, Georgia Chrousos
Mol Vis. 2014; 20: 691–703. Published online 2014 May 27.
PMCID:
PMC4037535
AbstractArticlePDF–1.0M
5.
Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Gitte J Almind, Jakob Ek, Thomas Rosenberg, Hans Eiberg, Michael Larsen, LuCamp LuCamp, Karen Brøndum-Nielsen, Karen Grønskov
BMC Med Genet. 2012; 13: 65. Published online 2012 Aug 2. doi: 10.1186/1471-2350-13-65
PMCID:
PMC3507804
AbstractArticlePDF–318K

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