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NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: willems ph. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.
The E1/E2-preference of gastric H,K-ATPase mutants.
De Pont JJ, Swarts HG, Willems PH, Koenderink JB. De Pont JJ, et al. Among authors: willems ph. Ann N Y Acad Sci. 2003 Apr;986:175-82. doi: 10.1111/j.1749-6632.2003.tb07157.x. Ann N Y Acad Sci. 2003. PMID: 12763793
The role of Lys791 and Asn792 in gastric H,K-ATPase.
Swarts HG, Willems PH, Koenderink JB, De Pont JJ. Swarts HG, et al. Among authors: willems ph. Ann N Y Acad Sci. 2003 Apr;986:308-9. doi: 10.1111/j.1749-6632.2003.tb07196.x. Ann N Y Acad Sci. 2003. PMID: 12763832 No abstract available.
242 results