“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
Συγγραφείς:	Nicita, Francesco^{Aff1, IDs4143102201111z_cor1}, Stregapede, Fabrizia^Aff1, Deodato, Federica^Aff2, Pizzi, Simone^Aff3, Martinelli, Simone^Aff4, Pagliara, Daria^Aff5, Aiello, Chiara^Aff1, Cumbo, Francesca^Aff1, Piemonte, Fiorella^Aff1, D’Amico, Jessica^Aff1, Pro, Stefano^Aff6, Longo, Daniela^Aff7, Genovese, Silvia^Aff8, Tartaglia, Marco^Aff3, Escolar, Maria L.^Aff9, Bertini, Enrico^Aff1, Travaglini, Lorena^{Aff1, IDs4143102201111z_cor17}
Πηγή:	European Journal of Human Genetics. 30(8):984-988
Βάση Δεδομένων:	Springer Nature Journals

Περιγραφή
ISSN:	10184813 14765438
DOI:	10.1038/s41431-022-01111-z