EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Eggens, Veerle R.C.Barth, Peter G.Niermeijer, Jikke-Mien F.Berg, Jonathan N.Darin, NiklasDixit, AbhijitFluss, JoelFoulds, NicolaFowler, DarrenHortobágyi, TiborJacques, ThomasKing, Mary D.Makrythanasis, PeriklisMáté, AdriennNicoll, James A.R.O'Rourke, DeclanPrice, SueWilliams, Andrew N.Wilson, LouiseSuri, MohnishSztriha, LászlóDijns-de Wissel, Marit B.van Meegen, Mia T.van Ruissen, FredAronica, EleonoraTroost, DirkMajoie, Charles B.L.M.Marquering, Henk A.Poll-Thé, BweeBaas, Frank2016-04-122016-04-122014Orphanet Journal of Rare Diseases. -9 : 23 (2014), p. 1-10. -Orphanet J. Rare Dis. - 1750-11721750-1172http://hdl.handle.net/2437/224517EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsfolyóiratcikkopen access journalhttp://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM063340OrvostudományokKlinikai orvostudományokhttp://www.ojrd.com/content/9/1/23BioMed Centralhttp://dx.doi.org/10.1186/1750-1172-9-232017-12-01