A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

By Milasin Jelena  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 73-79

Oxford University Press

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Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

By Bothwell Susan  

Mammalian Genome, Vol. 21, Iss. 9-10, 2010-10 ,pp. : 458-466

Springer Publishing Company

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Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3

By Twigg S.R.F.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 685-691

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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Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context

By Chen Hongmin   Wilkins Leon M.   Aziz Nazneen   Cannings Christopher   Wyllie David H.   Bingle Colin   Rogus John   Beck James D.   Offenbacher Steven   Cork Michael J.   Rafie-Kolpin Maryam   Hsieh Chung-Ming   Kornman Kenneth S.   Duff Gordon W.  

Human Molecular Genetics, Vol. 15, Iss. 4, 2006-02 ,pp. : 519-529

Oxford University Press

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