Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations-Reference-Cited by-同舟云学术

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Published:2010-12-10 Issue:1 Volume:34 Page:197-201
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Schara Ulrike,von Kleist-Retzow Jürgen-Christoph,Lainka Elke,Gerner Patrick,Pyle Angela,Smith Paul M.,Lochmüller Hanns,Czermin Birgit,Abicht Angela,Holinski-Feder Elke,Horvath Rita

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-010-9250-z

Reference22 articles.

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2. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303–1308

3. Coenen MJ, Antonicka H, Ugalde C et al. (2004) Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 351:2080–2086

4. Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44:173–180

5. Guan MX, Yan Q, Li X et al. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet 79:291–302

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