دورية أكاديمية
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
| العنوان: | “Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant |
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| المؤلفون: | Nicita, FrancescoAff1, IDs4143102201111z_cor1, Stregapede, Fabrizia, Deodato, Federica, Pizzi, Simone, Martinelli, Simone, Pagliara, Daria, Aiello, Chiara, Cumbo, Francesca, Piemonte, Fiorella, D’Amico, Jessica, Pro, Stefano, Longo, Daniela, Genovese, Silvia, Tartaglia, Marco, Escolar, Maria L., Bertini, Enrico, Travaglini, LorenaAff1, IDs4143102201111z_cor17 |
| المصدر: | European Journal of Human Genetics. 30(8):984-988 |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 10184813 14765438 |
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| DOI: | 10.1038/s41431-022-01111-z |