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Fig. 3 | Italian Journal of Pediatrics

Fig. 3

From: Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

Fig. 3

(A), (B), and (C) showing family pedigree of P1/P2 chromatogram and location of mutation (c.925G > A/p. E309K) in exon 9 respectively while (D) and (E) representing residue p. E309 across the species and 3D structure analysis of wild and mutant type gp91phox respectively, (F), (G) and (H) displaying the prediction tools (Polyphen-2, Mutation Taster and SIFT). The black filled squares represent patients

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