Identification of a Novel Pancreatitis-Associated Missense Mutation, R116C, in the Human Cationic Trypsinogen Gene (PRSS1)

By Le Maréchal C.   Bretagne J-F.   Raguénès O.   Quéré I.   Chen J-M.   Ferec C.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 3, 2001-11 ,pp. : 342-344

Academic Press

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A Novel CFTR Frame-Shift Mutation, 935delA, in Two Hispanic Cystic Fibrosis Patients

By Wang J.   Bowman C.M.   Wong L-J.C.  

Molecular Genetics and Metabolism, Vol. 70, Iss. 4, 2000-08 ,pp. : 316-321

Academic Press

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Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

By Coulter-Mackie M.B.   Gagnier L.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 2, 2003-06 ,pp. : 91-98

Elsevier

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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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Genetic Heterogeneity of Adrenocorticotropin (ACTH) Resistance Syndromes: Identification of a Novel Mutation of the ACTH Receptor Gene in Hereditary Glucocorticoid Deficiency

By Wu S-M.   Stratakis C.A.   Chan C.H.Y.   Hallermeier K.M.   Bourdony C.J.   Rennert O.M.   Chan W-Y.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 4, 1998-08 ,pp. : 256-265

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