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The Endosomal Protein-Sorting Receptor Sortilin Has a Role in Trafficking α-1 Antitrypsin

Up to 1 in 3000 individuals in the United States have α-1 antitrypsin deficiency, and the most common cause of this disease is homozygosity for the antitrypsin-Z variant (ATZ). ATZ is inefficiently secreted, resulting in protein deficiency in the lungs and toxic polymer accumulation in the liver. Ho...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Gelling, Cristy L., Dawes, Ian W., Perlmutter, David H., Fisher, Edward A., Brodsky, Jeffrey L.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Genetics Society of America 2012
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522165/
https://ncbi.nlm.nih.gov/pubmed/22923381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.112.143487
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