Citations for
1DGUOK, MDDS1
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS.
Mol Genet Metab 97(3):221-6. Epub 2009 Mar 27. 2009
2DGUOK, MDDS1
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ.
Hum Mutat 29(2):330-1. 2008
3DGUOK, MDDS1
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger P, Fźtterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horv‡th R.
Arch Neurol 63(8):1129-34. 2006
4DGUOK, TK2, MDDS1, MDDS2
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S.
Mol Genet Metab 84(1):75-82. 2005
5DGUOK, MDDS1
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.
Am J Med Genet A 135(3):289-91. 2005
6DGUOK, MDDS1
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rotig A.
Mol Genet Metab 86(4):462-5. Epub 2005 Nov 2. 2005
7DGUOK, MDDS1
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S.
Arch Neurol 62(5):745-7. 2005
8TK2, DGUOK, MDDS1, MDDS2
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.
Arch Neurol 60(7):1007-9. 2003
9DGUOK, MDDS1
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H.
Ann Neurol 52(2):237-9. 2002
10DGUOK, MDDS1
Identification and characterization of human deoxyguanosine kinase cDNA fragments.
Mansson E, Jonsson K, Albertioni F.
Cancer Lett 170(2):147-52. 2001
11DGUOK, MDDS1
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O.
Nat Genet 29(3):342-4. 2001