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 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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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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A novel mutation of −73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia

By Chen Xiao-Wei   Mo Qiu-Hua   Li Qiang   Zeng Rong   Xu Xiang-Min  

Annals of Hematology, Vol. 86, Iss. 9, 2007-09 ,pp. : 653-657

Springer Publishing Company

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