Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical d...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Clin Invest
मुख्य लेखकों: Burnett, Lisa C., LeDuc, Charles A., Sulsona, Carlos R., Paull, Daniel, Rausch, Richard, Eddiry, Sanaa, Carli, Jayne F. Martin, Morabito, Michael V., Skowronski, Alicja A., Hubner, Gabriela, Zimmer, Matthew, Wang, Liheng, Day, Robert, Levy, Brynn, Fennoy, Ilene, Dubern, Beatrice, Poitou, Christine, Clement, Karine, Butler, Merlin G., Rosenbaum, Michael, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J., Egli, Dieter, Leibel, Rudolph L.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Clinical Investigation 2016
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5199710/
https://ncbi.nlm.nih.gov/pubmed/27941249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI88648
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