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1 Ergebnisse
1
Novel GAA Variants and Mosaicism in Pompe Disease Identifie..:
in't Groen, Stijn L. M
;
de Faria, Douglas O. S
;
Iuliano, Alessandro
...
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8. , 2020
Link:
https://hdl.handle.net/11370/02aef7b6-9cb2-463a-9307-f..
RT Journal T1
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_02aef7b6-9cb2-463a-9307-f5565e370da8&Exemplar=1&LAN=DE A1 in't Groen, Stijn L. M A1 de Faria, Douglas O. S A1 Iuliano, Alessandro A1 van den Hout, Johanna M. P A1 Douben, Hannie A1 Dijkhuizen, Trijnie A1 Cassiman, David A1 Witters, Peter A1 Romero, Miguel-Angel Barba A1 de Klein, Annelies A1 Somers-Bolman, Galhana M A1 Saris, Jasper J A1 Hoefsloot, Lies H A1 van der Ploeg, Ans T A1 Bergsma, Atze J A1 Pijnappel, W. W. M. Pim YR 2020 K1 HUMAN GENE MUTATION K1 UNIPARENTAL DISOMY K1 ALPHA-GLUCOSIDASE K1 EXON INCLUSION K1 DELETION K1 THERAPY K1 COMPLEX JF https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8 LK http://dx.doi.org/https://hdl.handle.net/11370/02aef7b6-9cb2-463a-9307-f5565e370da8 DO https://hdl.handle.net/11370/02aef7b6-9cb2-463a-9307-f5565e370da8 SF ELIB - SuUB Bremen
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