Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases

By Wang Xiaowen   Salinas Kelly   Zuo Xiaoming   Kucejova Blanka   Chen Xin Jie  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 4036-4044

Oxford University Press

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The role of nucleotide context in the induction of mutations in human mitochondrial DNA genes

By Malyarchuk B.  

Russian Journal of Genetics, Vol. 41, Iss. 3, 2005-03 ,pp. : 301-305

MAIK Nauka/Interperiodica

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Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation

By McCray Brett A.   Skordalakes Emmanuel   Taylor J. Paul  

Human Molecular Genetics, Vol. 19, Iss. 6, 2010-03 ,pp. : 1033-1047

Oxford University Press

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Sequence-specific stalling of DNA polymerase  and the effects of mutations causing progressive ophthalmoplegia

By Atanassova Neli   Fusté Javier Miralles   Wanrooij Sjoerd   Macao Bertil   Goffart Steffi   Bäckström Stefan   Farge Geraldine   Khvorostov Ivan   Larsson Nils-Göran   Spelbrink Johannes N.   Falkenberg Maria  

Human Molecular Genetics, Vol. 20, Iss. 6, 2011-03 ,pp. : 1212-1223

Oxford University Press

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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

By Croxen Rebecca  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 767-774

Oxford University Press

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