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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548
Cyclic vomiting syndrome and mitochondrial DNA mutations.
Boles RG, Chun N, Senadheera D, Wong LJ. Boles RG, et al. Lancet. 1997 Nov 1;350(9087):1299-300. doi: 10.1016/S0140-6736(05)62477-4. Lancet. 1997. PMID: 9357417 No abstract available.
Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome.
Zaki EA, Freilinger T, Klopstock T, Baldwin EE, Heisner KR, Adams K, Dichgans M, Wagler S, Boles RG. Zaki EA, et al. Cephalalgia. 2009 Jul;29(7):719-28. doi: 10.1111/j.1468-2982.2008.01793.x. Epub 2009 Feb 10. Cephalalgia. 2009. PMID: 19220304
Mitochondrial disease and cyclic vomiting syndrome.
Boles RG, Williams JC. Boles RG, et al. Dig Dis Sci. 1999 Aug;44(8 Suppl):103S-107S. Dig Dis Sci. 1999. PMID: 10490048 Review.
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