Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy

By Yoshida K.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1129-1132

Oxford University Press

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Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy

By Ferlini A.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2627-2635

Oxford University Press

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

By Ramser Juliane  

Human Molecular Genetics, Vol. 14, Iss. 8, 2005-04 ,pp. : 1019-1027

Oxford University Press

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Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene

By Pomponio Robert J.  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 739-745

Oxford University Press

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Mutation of a putative mitochondrial iron transporter gene ( ABC7 ) in X-linked sideroblastic anemia and ataxia (XLSA/A)

By Allikmets R.  

Human Molecular Genetics, Vol. 8, Iss. 5, 1999-05 ,pp. : 743-749

Oxford University Press

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