A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

By Tiranti Valeria   Corona Paola   Greco Marilena   Taanman Jan-Willem  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2733-2742

Oxford University Press

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A Novel Missense Mutation in the DNA Mismatch Repair Gene hMLH1 Present among East Asians but Not among Europeans

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Human Heredity, Vol. 48, Iss. 2, 1998-02 ,pp. : 87-91

Karger

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

By Mee Lisa  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1475-1488

Oxford University Press

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Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells

By Kasahara Atsuko   Ishikawa Kaori   Yamaoka Makiko   Ito Masahito   Watanabe Naoki   Akimoto Miho   Sato Akitsugu   Nakada Kazuto   Endo Hitoshi   Suda Yoko   Aizawa Shinichi   Hayashi Jun-Ichi  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 871-881

Oxford University Press

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Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families

By Brown Michael   Zhadanov Sergei   Allen Jon   Hosseini Seyed   Newman Nancy   Atamonov Vasily   Mikhailovskaya Irina   Sukernik Rem   Wallace Douglas  

Human Genetics, Vol. 109, Iss. 1, 2001-07 ,pp. : 33-39

Springer Publishing Company

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