Complexities of 5'splice site definition: Implications in clinical analyses
about
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Antisense suppression of donor splice site mutations in the dystrophin gene transcript.A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
P2860
Complexities of 5'splice site definition: Implications in clinical analyses
description
im Juni 2012 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 23 May 2012
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2012
@uk
name
Complexities of 5'splice site definition: Implications in clinical analyses
@en
Complexities of 5'splice site definition: Implications in clinical analyses
@nl
type
label
Complexities of 5'splice site definition: Implications in clinical analyses
@en
Complexities of 5'splice site definition: Implications in clinical analyses
@nl
prefLabel
Complexities of 5'splice site definition: Implications in clinical analyses
@en
Complexities of 5'splice site definition: Implications in clinical analyses
@nl
P2093
P2860
P356
P1433
P1476
Complexities of 5'splice site definition: implications in clinical analyses
@en
P2093
Laura De Conti
Marco Baralle
Natasa Skoko
P2860
P304
P356
10.4161/RNA.20386
P577
2012-05-23T00:00:00Z