exonic splice enhancer
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scholarly journals Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site

2016 ◽  
Vol 14 (5) ◽  
pp. 4906-4910 ◽  
Author(s):  
Hiroki Otsuka ◽  
Hideo Sasai ◽  
Mina Nakama ◽  
Yuka Aoyama ◽  
Elsayed Abdelkreem ◽  
...  
Keyword(s):  
Exonic Splice Enhancer ◽  
Splice Enhancer ◽  
Exonic Splice ◽  
Exon 10

scholarly journals Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

2008 ◽  
Vol 16 (12) ◽  
pp. 1430-1436 ◽  
Author(s):  
Rob W J Collin ◽  
Anne-Martine R de Heer ◽  
Jaap Oostrik ◽  
Robert-Jan Pauw ◽  
Rutger F Plantinga ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exonic Splice Enhancer ◽  
Splice Enhancer ◽  
Exonic Splice

scholarly journals 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

2005 ◽  
Vol 14 (8) ◽  
pp. 1019-1027 ◽  
Author(s):  
Juliane Ramser ◽  
Fatima E. Abidi ◽  
Celine A. Burckle ◽  
Claus Lenski ◽  
Helga Toriello ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Exonic Splice Enhancer ◽  
Splice Enhancer ◽  
Exonic Splice
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