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The Defect in the Hurler and Scheie Syndromes: Deficiency of α-L-Iduronidase

Skin fibroblasts cultured from patients affected with the Hurler or Scheie syndromes (mucopoly-saccharidoses I or V, respectively) have a functional deficiency of a protein required for catabolism of sulfated mucopolysaccharide that has been designated the “Hurler corrective factor.” We now show Hur...

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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: Bach, Gideon, Friedman, Robert, Weissmann, Bernard, Neufeld, Elizabeth F.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 1972
Konular:
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC426865/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4262258/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.69.8.2048
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