| Title: | Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants |
Authors  : | Kroos, Marian; Hoogeveen-Westerveld, Marianne; Michelakakis, Helen; Pomponio, Robert; Van, der Ploeg Ans; Halley, Dicky; Reuser, Arnold; Augoustides-Savvopoulou, Persephone; Ausems, Margreet; Llona, Jose Barcena;
Bautista, Lorite Juan; van, der Beek Nadine; Bonafe, Luisa; Cuk, Mario; D'Hooghe, Marc; Engelen, Baziel; Farouk, A.; Fumic, K.; Garcia-Delgado, E.; Herzog, Andreas; Hurst, J.; Jones, Simon; Kariminejad, M. H.; Küçükçongar, Aynur; Lissens, W.; Lund, Allan; Majoor-Krakauer, Danielle; Kumamoto, Shingo; Maravi, E.; Marie, Suely; Mengel, Eugen; Mavridou, Irene; Munteis, Olivas E.; Najmabadi, H.; Okumiya, Toshika; Perić, Stojan   ; Paschke, Eduard; Plecko, Barbara; Robberecht, Wim; Serdaroglu, Piraye; Shboul, Mohammad; Tansek, Mojca Zerjav; Tarnutzer, A.; Stojanovic, Vidosava Rakocevic; Tylki-Szymanska, Anna; Venâncio, Maria; Verhoeven, Kristof;
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Issue Date: | 2012 |
Publication: | Human Mutation |
ISSN: | 1059-7794 Human Mutation Search Idenfier |
Type: | Article |
Collation: | vol. 33 br. 8 str. 1161-1165 |
DOI: | 10.1002/humu.22108 |
WoS-ID: | 000306375800005 |
Scopus-ID: | 2-s2.0-84863872592 |
URI: | https://enauka.gov.rs/handle/123456789/387491 |
Metadata source: | Migrirano iz RIS podataka |
M-category: | |
