Nalaganje...
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy disease) results from the deficient activity of the lysosomal enzyme, arylsulfatase B (ASB; N-acetylgalactosamine-4-sulfatase E.C.3.1.6.1). The enzymatic defect leads to the accumulation of the glycosaminoglycan, dermatan sulfate, primarily in co...
Shranjeno v:
| Main Authors: | , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1992
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682624/ https://ncbi.nlm.nih.gov/pubmed/1550123 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|