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1 Ergebnisse
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A frequent splicing mutation and novel missense mutations c..:
Coelho, Ana I.
;
Ramos, Ruben
;
Gaspar, Ana
...
Journal of Inherited Metabolic Disease. 37 (2013) 1 - p. 43-52 , 2013
Link:
https://doi.org/10.1007/s10545-013-9623-1
RT Journal T1
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s10545-013-9623-1&Exemplar=1&LAN=DE A1 Coelho, Ana I. A1 Ramos, Ruben A1 Gaspar, Ana A1 Costa, Cláudia A1 Oliveira, Anabela A1 Diogo, Luísa A1 Garcia, Paula A1 Paiva, Sandra A1 Martins, Esmeralda A1 Teles, Elisa Leão A1 Rodrigues, Esmeralda A1 Cardoso, M. Teresa A1 Ferreira, Elena A1 Sequeira, Sílvia A1 Leite, Margarida A1 Silva, Maria João A1 de Almeida, Isabel Tavares A1 Vicente, João B. A1 Rivera, Isabel PB Wiley YR 2013 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 37 IS 1 SP 43 OP 52 LK http://dx.doi.org/https://doi.org/10.1007/s10545-013-9623-1 DO https://doi.org/10.1007/s10545-013-9623-1 SF ELIB - SuUB Bremen
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