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Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.
Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT. Dinauer MC, et al. Among authors: orkin sh. Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11231-5. doi: 10.1073/pnas.88.24.11231. Proc Natl Acad Sci U S A. 1991. PMID: 1763037 Free PMC article.
DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH. Baehner RL, et al. Among authors: orkin sh. Proc Natl Acad Sci U S A. 1986 May;83(10):3398-401. doi: 10.1073/pnas.83.10.3398. Proc Natl Acad Sci U S A. 1986. PMID: 3010296 Free PMC article.
659 results