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 Novel Nonsense Mutation (515del4) in Muscle Carnitine Palmitoyltransferase II Deficiency

By Deschauer M.   Wieser T.   Schroder R.   Zierz S.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 2, 2002-02 ,pp. : 181-185

Elsevier

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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 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

Academic Press

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Human UDP-Galactose 4' Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients with Epimerase-Deficiency Galactosemia

By Maceratesi P.   Daude N.   Dallapiccola B.   Novelli G.   Allen R.   Okano Y.   Reichardt J.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 1, 1998-01 ,pp. : 26-30

Academic Press

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