A Novel Mutation Identified in Carnitine Palmitoyltransferase II Deficiency

By Yang B.Z.   Ding J.H.   Roe D.   dewese T.   Day D.W.   Roe C.R.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 2, 1998-02 ,pp. : 110-115

Academic Press

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A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

By Deschauer M.   Chrzanowska-Lightowlers Z.M.A.   Biekmann E.   Pourfarzam M.   Taylor R.W.   Turnbull D.M.   Zierz S.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 2, 2003-06 ,pp. : 124-128

Elsevier

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Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency

By Yang B-Z.   Ding J-H.   dewese T.   Roe D.   He G.   Wilkinson J.   Day D.W.   demaugre F.   Rabier D.   Brivet M.   Roe C.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 4, 1998-08 ,pp. : 229-236

Academic Press

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A Novel Nonsense Mutation (R269X) in the Myophosphorylase Gene in a Patient with McArdle Disease

By Deschauer M.   Opalka J.R.   Lindner A.   Zierz S.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 4, 2001-12 ,pp. : 489-491

Academic Press

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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

Academic Press

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