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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...

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Bibliografski detalji
Glavni autori: Mariam Meghdari, Nicholas Gao, Abass Abdullahi, Erin Stokes, David H Calhoun
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science (PLoS) 2015-01-01
Serija:PLoS ONE
Online pristup:http://europepmc.org/articles/PMC4342250?pdf=render
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