Transfection Screening for Defects in the PCCA and PCCB Genes Encoding Propionyl-CoA Carboxylase Subunits

By Rodriguez-Pombo P.   Pérez-Cerdá C.   Desviat L.R.   Pérez B.   Ugarte M.   Rodríguez-Pombo P.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 3, 2002-03 ,pp. : 276-279

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Changes in the Carboxyl Terminus of the β Subunit of Human Propionyl-CoA Carboxylase Affect the Oligomer Assembly and Catalysis: Expression and Characterization of Seven Patient-Derived Mutant Forms of PCC in Escherichia coli

By Chloupková M.   Ravn K.   Schwartz M.   Kraus J.P.  

Molecular Genetics and Metabolism, Vol. 71, Iss. 4, 2000-12 ,pp. : 623-632

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Coding Sequence Mutations in the Alpha Subunit of Propionyl-CoA Carboxylase in Patients with Propionic Acidemia

By Campeau E.   Dupuis L.   León-del-Rio A.   Gravel R.  

Molecular Genetics and Metabolism, Vol. 67, Iss. 1, 1999-05 ,pp. : 11-22

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Novel mutations in the PATCHED gene in basal cell nevus syndrome

By Lam C-W.   Leung C-Y.   Lee K-C.   Xie J.   Lo F-M.   Au T-S.   Tong S-F.   Poon M-K.   Chan L-Y.   Luk N-M.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 57-61

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Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut^- Methylmalonyl-CoA Deficiency

By Benoist J-F.   Acquaviva C.   Callebaut I.   Guffon N.   Ogier de Baulny H.   Mornon J-P.   Porquet D.   Elion J.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 181-184

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