PMC Links for Nucleotide (Select 1519316275) - PMC

Select item 64547301.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh

BMC Med Genet. 2019; 20: 62. Published online 2019 Apr 8. doi: 10.1186/s12881-019-0795-x

PMCID:: PMC6454730

Abstract Article PDF–5.3M

Select item 33985022.

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Julie Désir, Frauke Coppieters, Nicole Van Regemorter, Elfride De Baere, Marc Abramowicz, Monique Cordonnier

Mol Vis. 2012; 18: 1849–1857. Published online 2012 Jul 5.

PMCID:: PMC3398502

Abstract Article PDF–4.2M

Select item 29434763.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 28557334.

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

Esther Meyer, Michel Michaelides, Louise J. Tee, Anthony G. Robson, Fatimah Rahman, Shanaz Pasha, Linda M. Luxon, Anthony T. Moore, Eamonn R. Maher

Mol Vis. 2010; 16: 650–664. Published online 2010 Apr 13.

PMCID:: PMC2855733

Abstract Article PDF–2.6M

Select item 26679745.

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre, Dominique Chretien, Nathalie Delphin, Lucas Fares-Taie, Sahran Lachheb, Agnès Rotig, Françoise Meire, Arnold Munnich, Jean-Louis Dufier, Josseline Kaplan, Jean-Michel Rozet

Am J Hum Genet. 2009 Apr 10; 84(4): 493–498. doi: 10.1016/j.ajhg.2009.03.003

PMCID:: PMC2667974

Abstract Article PDF–1.0M

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