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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Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

By Wang Z.   Li H.   Moss A.J.   Robinson J.   Zareba W.   Knilans T.   Bowles N.E.   Towbin J.A.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 4, 2002-04 ,pp. : 308-316

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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

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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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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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