Source: Human mutation. Unidade: FM
Subjects: GLICOGENOSE, MUTAÇÃO GENÉTICA, MUTAGÊNESE, BANCO DE DADOS
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KROOS, Marian et al. 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. Human mutation, v. 33, n. 8, p. 1161-1165, 2012Tradução . . Disponível em: https://doi.org/10.1002/humu.22108. Acesso em: 26 out. 2025.APA
Kroos, M., Hoogeveen-westerveld, M., Michelakakis, H., Pomponio, R., Ploeg, A. V. der, Halley, D., et al. (2012). 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. Human mutation, 33( 8), 1161-1165. doi:10.1002/humu.22108NLM
Kroos M, Hoogeveen-westerveld M, Michelakakis H, Pomponio R, Ploeg AV der, Halley D, Reuser A, Marie SKN. 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 [Internet]. Human mutation. 2012 ; 33( 8): 1161-1165.[citado 2025 out. 26 ] Available from: https://doi.org/10.1002/humu.22108Vancouver
Kroos M, Hoogeveen-westerveld M, Michelakakis H, Pomponio R, Ploeg AV der, Halley D, Reuser A, Marie SKN. 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 [Internet]. Human mutation. 2012 ; 33( 8): 1161-1165.[citado 2025 out. 26 ] Available from: https://doi.org/10.1002/humu.22108
