Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Bradshaw G, Lualhati RR, Albury CL, Maksemous N, Roos-Araujo D, Smith RA, Benton MC, Eccles DA, Lea RA, Sutherland HG, Haupt LM, Griffiths LR.
Bradshaw G, et al.
Front Immunol. 2018 Mar 5;9:420. doi: 10.3389/fimmu.2018.00420. eCollection 2018.
Front Immunol. 2018.
PMID: 29556235
Free PMC article.
Western Blot analysis demonstrated an absence of moesin protein in lymphocytes derived from the proband, compared with normal expression in lymphocytes derived from the healthy control, father and mother. qPCR identified significantly lower MSN mRNA transcript expression in the p …
Western Blot analysis demonstrated an absence of moesin protein in lymphocytes derived from the proband, compared with normal expression in …