Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia

BACKGROUND: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LR...

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Detaylı Bibliyografya
Yayımlandı:Colomb Med (Cali)
Asıl Yazarlar: Martínez-Jaramillo, Catalina, Gutierrez-Hincapie, Sebastian, Arango, Julio César Orrego, Vásquez-Duque, Gloria María, Erazo-Garnica, Ruth María, Franco, Jose Luis, Trujillo-Vargas, Claudia Milena
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Universidad del Valle 2019
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7141146/
https://ncbi.nlm.nih.gov/pubmed/32284663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25100/cm.v50i3.3969
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