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)
| author | |
| created | [InstanceEdit:2245320] Jassal, B, 2012-05-11 |
| dbId | 2245311 |
| displayName | 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) |
| journal | Mol Genet Metab |
| pages | 77-80 |
| pubMedIdentifier | 16990043 |
| schemaClass | LiteratureReference |
| title | 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) |
| url | http://www.ncbi.nlm.nih.gov/pubmed/16990043 |
| volume | 90 |
| year | 2007 |
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