Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet Union

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Molecular Genetics and Metabolism, Vol. 65, Iss. 2, 1998-10 ,pp. : 174-180

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Functional Characterization of the Novel Mutation IVS 8 (-11delC) (-14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I

By Romano M.   Danek G.M.   Baralle F.E.   Mazzotti R.   Filocamo M.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 3, 2000-06 ,pp. : 171-176

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Mutation Analysis of the MCM Gene in Israeli Patients with mut⁰ Disease

By Berger I.   Shaag A.   Anikster Y.   Baumgartner E.R.   Bar-Meir M.   Joseph A.   Elpeleg O.N.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 1, 2001-05 ,pp. : 107-110

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Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

By Chen R.   Tsuji T.   Ichida F.   Bowles K.R.   Yu X.   Watanabe S.   Hirono K.   Tsubata S.   Hamamichi Y.   Ohta J.   Imai Y.   Bowles N.E.   Miyawaki T.   Towbin J.A.  

Molecular Genetics and Metabolism, Vol. 77, Iss. 4, 2002-12 ,pp. : 319-325

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Mutation Analysis of the Transferrin Receptor-2 Gene in Patients with Iron Overload

By Lee P.L.   Halloran C.   West C.   Beutler E.  

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 1, 2001-01 ,pp. : 285-289

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