Full text in PMC (nucleotide) for Gene (Select 287126) - PMC

Result Filters

Links from Gene

Items: 3

Select item 55443911.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnes Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn

Am J Hum Genet. 2017 Aug 3; 101(2): 239–254. Published online 2017 Aug 3. doi: 10.1016/j.ajhg.2017.07.005

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5544391

Abstract Article PDF–2.8M

Select item 43766782.

Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction

Tara R. Richman, Judith A. Ermer, Stefan M. K. Davies, Kara L. Perks, Helena M. Viola, Anne-Marie J. Shearwood, Livia C. Hool, Oliver Rackham, Aleksandra Filipovska

PLoS Genet. 2015 Mar; 11(3): e1005089. Published online 2015 Mar 27. doi: 10.1371/journal.pgen.1005089

PMCID:: PMC4376678

Abstract Article PDF–18M

Select item 5402773.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405