Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients

Figure 3 Genetic mutations identified in LABA-deficient patients (83 previously reported patients together with our three patients). A: The number of patients carrying mutations in different exons/introns; B: LRBA protein map indicating the mutation sites. The location of the present mutations is represented with a orange arrow, and previously reported mutations are represented by black arrows. LRBA: LPS-responsive beige-like anchor protein.