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Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo B disease) is an autosomal recessive storage disorder caused by deficiency of the lysosomal enzyme α-N-acetylglucosaminidase. Mutation screening was performed on a group of 22 patients using a combination of SSCP/heteroduplex analysis of amplif...
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| Glavni autori: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Group
1999
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1762943/ https://ncbi.nlm.nih.gov/pubmed/9950362 |
| Oznake: |
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