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Carboxyl-terminal truncations alter the activity of the human α-galactosidase A.
Fabry disease is an X-linked inborn error of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, α-galactosidase A (αGal), leading to strokes, myocardial infarctions, and terminal renal failure, often leading to death in the fourth or fifth decade of life. The enzyme is respons...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Public Library of Science (PLoS)
2015-01-01
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| Cyfres: | PLoS ONE |
| Mynediad Ar-lein: | http://europepmc.org/articles/PMC4342250?pdf=render |
| Tagiau: |
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