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Article

Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.

Clinical genetics - 1 Sept 2003

Concolino D, Mussari A, Filocamo M, Strisciuglio P

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PMID: 12919144
DOI: 10.1034/j.1399-0004.2003.00129.x

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