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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Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

By Battaile K.P.   Battaile B.C.   Merkens L.S.   Maslen C.L.   Steiner R.D.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 1, 2001-01 ,pp. : 67-71

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Demonstration of Altered Splicing with the IVS3-1G → A Mutation of Cathepsin C

By Nusier M.   Zhang Y.   Yassin O.   Hart T.C.   Hart P.S.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 3, 2002-03 ,pp. : 280-283

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Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis

By de Villiers J.N.P.   Beutler M.E.J.  

Blood Cells, Molecules, and Diseases, Vol. 25, Iss. 4, 1999-08 ,pp. : 250-252

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Celtic Origin of the C282Y Mutation of Hemochromatosis

By Beutler G.E.  

Blood Cells, Molecules, and Diseases, Vol. 24, Iss. 4, 1998-12 ,pp. : 433-438

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