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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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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Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

By Azevedo L.   Vilarinho L.   Leao Teles E.   Amorim A.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 68-70

Academic Press

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Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

By Hellerud C.   Adamowicz M.   Jurkiewicz D.   Taybert J.   Kubalska J.   Ciara E.   Popowska E.   Ellis J.R.   Lindstedt S.   Pronicka E.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 3, 2003-07 ,pp. : 149-159

Elsevier

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