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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

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Title: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Authors: Cullup T; DNA Laboratory, Guy's and St Thomas' Serco Pathology, Guy's Hospital, London, UK., Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H
Source: Nature genetics [Nat Genet] 2013 Jan; Vol. 45 (1), pp. 83-7. Date of Electronic Publication: 2012 Dec 09.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2013 Jan; Vol. 45 (1), pp. 83-7. <i>Date of Electronic Publication: </i>2012 Dec 09.
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