Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

By Achermann J.C.   Meeks J.J.   Jeffs B.   Das U.   Clayton P.E.   Brook C.G.D.   Jameson J.L.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 354-357

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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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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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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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Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

By Dey R.   Aral B.   Abitbol M.   Marsac C.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 4, 2002-08 ,pp. : 344-347

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