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1.
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
Hum Mutat
; 32(2): 220-30, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21120954
2.
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Hum Mutat
; 31(4): 437-44, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20120036
3.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Am J Hum Genet
; 80(3): 416-32, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17273963
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