title: RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
authors.affiliation: Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK.
authors.forename: C
authors.initials: C
authors.lastname: Fratter
authors.forename: P
authors.initials: P
authors.lastname: Raman
authors.forename: C L
authors.initials: CL
authors.lastname: Alston
authors.forename: E L
authors.initials: EL
authors.lastname: Blakely
authors.forename: K
authors.initials: K
authors.lastname: Craig
authors.forename: C
authors.initials: C
authors.lastname: Smith
authors.forename: J
authors.initials: J
authors.lastname: Evans
authors.forename: A
authors.initials: A
authors.lastname: Seller
authors.forename: B
authors.initials: B
authors.lastname: Czermin
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: C
authors.initials: C
authors.lastname: Brierley
authors.forename: T G
authors.initials: TG
authors.lastname: Staunton
authors.forename: P D
authors.initials: PD
authors.lastname: Turnpenny
authors.forename: A M
authors.initials: AM
authors.lastname: Schaefer
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: R
authors.initials: R
authors.lastname: Horvath
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: G S
authors.initials: GS
authors.lastname: Gorman
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D000367:Age Factors; D018797:Cell Cycle Proteins / Q000235:genetics*; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D012264:Ribonucleotide Reductases / Q000172:deficiency* / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004272:DNA, Mitochondrial; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases