NAGLU mutations underlying Sanfilippo syndrome type B.

Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several muta...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Schmidtchen, A, Greenberg, D, Zhao, H G, Li, H H, Huang, Y, Tieu, P, Zhao, H Z, Cheng, S, Zhao, Z, Whitley, C B, Di Natale, P, Neufeld, E F
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376809/
https://ncbi.nlm.nih.gov/pubmed/9443878
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak