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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Autors principals: Bunge, S., Knigge, A., Steglich, C., Kleijer, W., van Diggelen, O. P, Beck, M., Gal, A.
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1999
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762943/
https://ncbi.nlm.nih.gov/pubmed/9950362
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