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Fig. 4 | Italian Journal of Pediatrics

Fig. 4

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

Fig. 4

(A), (B), and (C) showing family pedigree of P2/P3, chromatogram and location of mutation (c.216T > A/p.C72X) in exon 3 respectively while (D) and (E) indicating residue p.C72 across the species and 3D structure analysis of wild and mutant type p.C72X gp91phox respectively. (F) indicating the Mutation Taster result. The black filled squares represent patients

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