Characterization of Six Mutations in Five Spanish Patients with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Effects of Amino Acid Substitutions on Tertiary Structure

By Fukao T.   Nakamura H.   Nakamura K.   Perez-Cerda C.   Baldellou A.   Barrionuevo C.R.   Castello F.G.   Kohno Y.   Ugarte M.   Kondo N.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 3, 2002-03 ,pp. : 235-243

Academic Press

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A Novel Single-Base Substitution (380C>T) That Activates a 5-Base Downstream Cryptic Splice-Acceptor Site within Exon 5 in Almost All Transcripts in the Human Mitochondrial Acetoacetyl-CoA Thiolase Gene

By Nakamura K.   Fukao T.   Perez-Cerda C.   Luque C.   Song X-Q.   Naiki Y.   Kohno Y.   Ugarte M.   Kondo N.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 115-121

Academic Press

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Identification of a Novel Mutation in Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

By Yang B-Z.   Ding J-H.   Zhou C.   Dimachkie M.M.   Sweetman L.   Dasouki M.J.   Wilkinson J.   Roe C.R.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 259-262

Academic Press

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Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency

By Pomponio R.J.   Yamaguchi A.   Arashima S.   Hymes J.   Wolf B.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 2, 1998-06 ,pp. : 152-154

Academic Press

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Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the C2 gene

By Zhao Yaofeng   Pan-Hammarström Qiang   Zhao Zhihui   Wen Sicheng   Hammarström Lennart  

International Immunology, Vol. 17, Iss. 1, 2005-01 ,pp. : 95-101

Oxford University Press

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