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Genotype-phenotype correspondence in Sanfilippo syndrome type B.
Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for alpha-N-acetylglucosaminidase (NAGLU); only a few mutations have been described. To rapidly identify most NAGLU mutations, an automated sequencing procedure was developed for analysis of the entire c...
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| Hoofdauteurs: | , , |
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| Formaat: | Artikel |
| Taal: | English |
| Gepubliceerd in: |
1998
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1376807/ https://ncbi.nlm.nih.gov/pubmed/9443875 |
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