Literature DB >> 9832049

Pitfalls in the diagnosis of mtDNA mutations.

S Seneca, W Lissens, I Liebaers, P van den Bergh, M C Nassogne, A Benatar, L de Meirleir.   

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Year:  1998        PMID： 9832049      PMCID： PMC1051498          DOI： 10.1136/jmg.35.11.963

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


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  7 in total

1.  Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.

Authors:  A W Thomas; A Edwards; E J Sherratt; A Majid; J Gagg; J C Alcolado
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

2.  Compilation of tRNA sequences and sequences of tRNA genes.

Authors:  M Sprinzl; C Steegborn; F Hübel; S Steinberg
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

3.  A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Authors:  I Nishino; A Seki; Y Maegaki; K Takeshita; S Horai; I Nonaka; Y Goto
Journal:  Biochem Biophys Res Commun       Date:  1996-08-05       Impact factor: 3.575

4.  Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

Authors:  F M Santorelli; K Tanji; M Sano; S Shanske; M El-Shahawi; P Kranz-Eble; S DiMauro; D C De Vivo
Journal:  Ann Neurol       Date:  1997-08       Impact factor: 10.422

5.  Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy.

Authors:  M Houshmand; N G Larsson; E Holme; A Oldfors; M H Tulinius; O Andersen
Journal:  Biochim Biophys Acta       Date:  1994-04-12

6.  Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.

Authors:  J M Shoffner; M G Bialer; S G Pavlakis; M Lott; A Kaufman; J Dixon; S Teichberg; D C Wallace
Journal:  Neurology       Date:  1995-02       Impact factor: 9.910

7.  Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Authors:  V Tiranti; P Chariot; F Carella; A Toscano; P Soliveri; P Girlanda; F Carrara; G M Fratta; F M Reid; C Mariotti; M Zeviani
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150
  7 in total
  1 in total

1.  A natural non-Watson-Crick base pair in human mitochondrial tRNAThr causes structural and functional susceptibility to local mutations.

Authors:  Yong Wang; Qi-Yu Zeng; Wen-Qiang Zheng; Quan-Quan Ji; Xiao-Long Zhou; En-Duo Wang
Journal:  Nucleic Acids Res       Date:  2018-05-18       Impact factor: 16.971
  1 in total

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