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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Use of TaqI Digestion May Lead to Incorrect Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

By Lee H-H.   de Wijs I.J.   Sistermans E.A.  

Molecular Genetics and Metabolism, Vol. 70, Iss. 4, 2000-08 ,pp. : 322-324

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Analysis of Multiple Mutations in the hALG6 Gene in a Patient with Congenital Disorder of Glycosylation Ic

By Westphal V.   Schottstädt C.   Marquardt T.   Freeze H.H.  

Molecular Genetics and Metabolism, Vol. 70, Iss. 3, 2000-07 ,pp. : 219-223

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Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

By Guimaraes C.P.   Lemos M.   Sa´-Miranda C.   Azevedo J.E.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 62-67

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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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