Literature DB >> 15591266

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.

G Zsurka, R Schröder, C Kornblum, J Rudolph, R J Wiesner, C E Elger, W S Kunz.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15591266      PMCID: PMC1735651          DOI: 10.1136/jmg.2004.022566

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  5 in total

1.  Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.

Authors:  Gábor Zsurka; Kevin G Hampel; Tatiana Kudina; Cornelia Kornblum; Yevgenia Kraytsberg; Christian E Elger; Konstantin Khrapko; Wolfram S Kunz
Journal:  Am J Hum Genet       Date:  2006-12-27       Impact factor: 11.025

2.  What is a 'novel' mtDNA mutation--and does 'novelty' really matter?

Authors:  Hans-Jürgen Bandelt; Antonio Salas; Claudio M Bravi
Journal:  J Hum Genet       Date:  2006-10-05       Impact factor: 3.172

3.  Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Authors:  Jorida Coku; Sara Shanske; Mahsa Mehrazin; Kurenai Tanji; Ali Naini; Valentina Emmanuele; Marc Patterson; Michio Hirano; Salvatore DiMauro
Journal:  J Neurol Sci       Date:  2009-12-22       Impact factor: 3.181

4.  Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.

Authors:  Gábor Zsurka; Yevgenia Kraytsberg; Tatiana Kudina; Cornelia Kornblum; Christian E Elger; Konstantin Khrapko; Wolfram S Kunz
Journal:  Nat Genet       Date:  2005-07-17       Impact factor: 38.330

5.  Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes.

Authors:  Yan Guo; Amma Bosompem; Sanjay Mohan; Begum Erdogan; Fei Ye; Kasey C Vickers; Quanhu Sheng; Shilin Zhao; Chung-I Li; Pei-Fang Su; Madan Jagasia; Stephen A Strickland; Elizabeth A Griffiths; Annette S Kim
Journal:  BMC Genomics       Date:  2015-09-24       Impact factor: 3.969

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.