Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID) / Beesley, Ce; Concolino, D; Filocamo, M; Winchester, Bg; Strisciuglio, Pietro. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7206. - STAMPA. - (2007), pp. 77-80.
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
STRISCIUGLIO, PIETRO
2007
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