U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from OMIM

Items: 4

1.
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Atsushi Takata, Maiko Kato, Masayuki Nakamura, Takeo Yoshikawa, Shigenobu Kanba, Akira Sano, Tadafumi Kato
Genome Biol. 2011; 12(9): R92. Published online 2011 Sep 28. doi: 10.1186/gb-2011-12-9-r92
PMCID:
PMC3308055
AbstractArticlePDF–614K
2.
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
C. Fratter, P. Raman, C.L. Alston, E.L. Blakely, K. Craig, C. Smith, J. Evans, A. Seller, B. Czermin, M.G. Hanna, J. Poulton, C. Brierley, T.G. Staunton, P.D. Turnpenny, A.M. Schaefer, P.F. Chinnery, R. Horvath, D.M. Turnbull, G.S. Gorman, R.W. Taylor
Neurology. 2011 Jun 7; 76(23): 2032–2034. doi: 10.1212/WNL.0b013e31821e558b
PMCID:
PMC3109879
ArticlePDF–109K
3.
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
Aziz Shaibani, Oleg A. Shchelochkov, Shulin Zhang, Panagiotis Katsonis, Olivier Lichtarge, Lee-Jun Wong, Marwan Shinawi
Arch Neurol. Author manuscript; available in PMC 2009 Nov 1.
Published in final edited form as: Arch Neurol. 2009 Aug; 66(8): 1028–1032. doi: 10.1001/archneurol.2009.139
PMCID:
PMC2747647
AbstractArticlePDF–963K
4.
A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
Henna Tyynismaa, Emil Ylikallio, Mehul Patel, Maria J. Molnar, Ronald G. Haller, Anu Suomalainen
Am J Hum Genet. 2009 Aug 14; 85(2): 290–295. doi: 10.1016/j.ajhg.2009.07.009
PMCID:
PMC2725268
AbstractArticlePDF–472K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center