Mutations Are Not Uniformly Distributed throughout the OCRL1 Gene in Lowe Syndrome Patients

By Lin T.   Orrison B.M.   Suchy S.F.   Lewis R.A.   Nussbaum R.L.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 1, 1998-05 ,pp. : 58-61

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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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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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