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

Academic Press

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

By Özkara H.A.   Navon R.  

Molecular Genetics and Metabolism, Vol. 65, Iss. 3, 1998-11 ,pp. : 250-253

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Mutations of CTNS Causing Intermediate Cystinosis

By Thoene J.   Lemons R.   Anikster Y.   Mullet J.   Paelicke K.   Lucero C.   Gahl W.   Schneider J.   Shu S.G.   Campbell H.T.  

Molecular Genetics and Metabolism, Vol. 67, Iss. 4, 1999-08 ,pp. : 283-293

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Carrier Frequency of the Bloom Syndrome blm^Ash Mutation in the Ashkenazi Jewish Population

By Li L.   Eng C.   desnick R.J.   German J.   Ellis N.A.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 4, 1998-08 ,pp. : 286-290

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Efficient Detection of Thirty-Seven New IL2RG Mutations in Human X-Linked Severe Combined Immunodeficiency

By Niemela J.E.   Puck J.M.   Fischer R.E.   Fleisher T.A.   Hsu A.P.  

Clinical Immunology, Vol. 95, Iss. 1, 2000-04 ,pp. : 33-38

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