Mutations of the ACTH Receptor Gene in a New Family with Isolated Glucocorticoid Deficiency

By Tsigos C.   Tsiotra P.   Garibaldi L.R.   Stavridis J.C.   Chrousos G.P.   Raptis S.A.  

Molecular Genetics and Metabolism, Vol. 71, Iss. 4, 2000-12 ,pp. : 646-650

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Identification of a Novel Mutation in Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

By Yang B-Z.   Ding J-H.   Zhou C.   Dimachkie M.M.   Sweetman L.   Dasouki M.J.   Wilkinson J.   Roe C.R.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 259-262

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A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

By Malloy P.J.   Zhu W.   Bouillon R.   Feldman D.  

Molecular Genetics and Metabolism, Vol. 77, Iss. 4, 2002-12 ,pp. : 314-318

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Transferrin Receptor Mutation Analysis in Hereditary Hemochromatosis Patients

By Tsuchihashi Z.   Hansen S.L.   Quintana L.   Kronmal G.S.   Mapa F.A.   Feder J.N.   Motulsky R.A.K.G.  

Blood Cells, Molecules, and Diseases, Vol. 24, Iss. 3, 1998-09 ,pp. : 317-321

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A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

By Furlanetto T.W.   Kopp P.   Peccin S.   Gu W-X.   Jameson J.L.  

Molecular Genetics and Metabolism, Vol. 71, Iss. 3, 2000-11 ,pp. : 520-526

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