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Comment
. 2016 Sep;139(Pt 9):e52.
doi: 10.1093/brain/aww135. Epub 2016 Jun 24.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Megan S Kane  1 , Thierry Vilboux  2 , Lynne A Wolfe  3 , Paul R Lee  4 , Yupeng Wang  1 , Kathi C Huddleston  1 , Joseph G Vockley  5 , John E Niederhuber  6 , Benjamin D Solomon  7
Affiliations
Comment

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Megan S Kane et al. Brain. 2016 Sep.
No abstract available

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Figures

Figure 1
Figure 1
Aberrant splicing. Different splicing events identified after cDNA amplification of EPG5 (between exon 2 and 5) in control (Ct) and patient (Pt) fibroblasts compared to the normal isoform (NM_020964.2). The per cent of sequenced clones from each sample that map to the indicated isoforms are provided in the table along with the total number (n) of clones sequenced. Isoforms that are predicted to encode a premature termination codon are labelled in red. Coordinates for the aberrant splice sites are provided below each specific isoform and reference the normal isoform cDNA sequence.
See this image and copyright information in PMC

Comment in

Comment on

  • EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
    Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.

References

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    1. Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, et al. . EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016b; 139 (Pt 3): 765–81. - PMC - PubMed

Supplementary concepts