Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Elsevier 2023-06-01
Цуврал:iScience
Нөхцлүүд:
Human Genetics
Molecular genetics
Онлайн хандалт:http://www.sciencedirect.com/science/article/pii/S2589004223008957

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http://www.sciencedirect.com/science/article/pii/S2589004223008957

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