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Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
Authors
C. Di Domenico
PAOLA DI NATALE
G. Pontarelli
GUGLIELMO ROSARIO DOMENI VILLANI
Publication date
1 January 2006
Publisher
Abstract
We report a female patient with heparan N-sulphatase deficiency (MPS IIIA) whose genotype (P293T/R304L; V387M) was investigate
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Archivio della ricerca - Università degli studi di Napoli Federico II
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oai:www.iris.unina.it:11588/48...
Last time updated on 12/11/2016
