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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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Dettagli Bibliografici
Autori principali: Zhao, H G, Aronovich, E L, Whitley, C B
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376807/
https://ncbi.nlm.nih.gov/pubmed/9443875
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