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

Academic Press

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Compound Heterozygous RAG2 Mutations Mimicking Hyper IgM Syndrome

By Riccetto A.   Buzolin M.   Fernandes J.   Traina F.   Barjas-de-Castro M.   Silva M.   Oliveira J.   Vilela M.  

Journal of Clinical Immunology, Vol. 34, Iss. 1, 2014-01 ,pp. : 7-9

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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.  

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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.  

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At Least Six Different Mutations in HEXA Gene Cause Tay-Sachs Disease among the Turkish Population

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