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.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 213-222

Academic Press

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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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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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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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Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

By Achermann J.C.   Meeks J.J.   Jeffs B.   Das U.   Clayton P.E.   Brook C.G.D.   Jameson J.L.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 354-357

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