Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

By Röschinger W.   Muntau A.C.   Rudolph G.   Roscher A.A.   Kammerer S.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 213-222

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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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.  

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Two Novel Missense Mutations of the HFE Gene (I105T and G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis Probands

By Barton J.C.   Sawada-Hirai R.   Rothenberg B.E.   Acton R.T.  

Blood Cells, Molecules, and Diseases, Vol. 25, Iss. 3, 1999-06 ,pp. : 147-155

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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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