CTNS Mutations in African American Patients with Cystinosis

By Kleta R.   Anikster Y.   Lucero C.   Shotelersuk V.   Huizing M.   Bernardini I.   Park M.   Thoene J.   Schneider J.   Gahl W.A.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 3, 2001-11 ,pp. : 332-337

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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.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 57-61

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Relation between HFE Mutations and Mild Iron-Overload Expression

By Mura C.   Le Gac G.   Raguénes O.   Mercier A-Y.   Le Guen A.   Férec C.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 4, 2000-04 ,pp. : 295-301

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Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut^- Methylmalonyl-CoA Deficiency

By Benoist J-F.   Acquaviva C.   Callebaut I.   Guffon N.   Ogier de Baulny H.   Mornon J-P.   Porquet D.   Elion J.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 181-184

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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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