A Novel Single-Base Substitution (380C>T) That Activates a 5-Base Downstream Cryptic Splice-Acceptor Site within Exon 5 in Almost All Transcripts in the Human Mitochondrial Acetoacetyl-CoA Thiolase Gene

By Nakamura K.   Fukao T.   Perez-Cerda C.   Luque C.   Song X-Q.   Naiki Y.   Kohno Y.   Ugarte M.   Kondo N.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 115-121

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.  

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Academic Press

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A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1

By Sappal B.S.   Ghosh S.S.   Shneider B.   Kadakol A.   Chowdhury J.R.   Chowdhury N.R.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 2, 2002-02 ,pp. : 134-142

Elsevier

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Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

By Dey R.   Aral B.   Abitbol M.   Marsac C.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 4, 2002-08 ,pp. : 344-347

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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

By Reissner K.   Tayebi N.   Stubblefield B.K.   Koprivica V.   Blitzer M.   Holleran W.   Cowan T.   Almashanu S.   Maddalena A.   Karson E.M.   Sidransky E.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 4, 1998-04 ,pp. : 281-288

Academic Press

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