Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency

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Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1011-1016

Oxford University Press

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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

By Nyhan W.L.  

Human Molecular Genetics, Vol. 10, Iss. 12, 2001-06 ,pp. : 1299-1306

Oxford University Press

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The role of histone acetylation in SMN gene expression

By Kernochan Lauren E.   Russo Melissa L.   Woodling Nathaniel S.   Huynh Thanh N.   Avila Amy M.   Fischbeck Kenneth H.   Sumner Charlotte J.  

Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1171-1182

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A novel deficiency of mitochondrial ATPase of nuclear origin

By Houstek Josef  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 1967-1974

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Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

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Human Heredity, Vol. 52, Iss. 2, 2001-07 ,pp. : 99-101

Karger

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