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

Academic Press

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Novel mutations in domain I of SCN5A cause Brugada syndrome

By Vatta M.   Dumaine R.   Antzelevitch C.   Brugada R.   Li H.   Bowles N.E.   Nademanee K.   Brugada J.   Brugada P.   Towbin J.A.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 4, 2002-04 ,pp. : 317-324

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Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

By Wang Z.   Li H.   Moss A.J.   Robinson J.   Zareba W.   Knilans T.   Bowles N.E.   Towbin J.A.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 4, 2002-04 ,pp. : 308-316

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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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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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