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Splicing mutations in human genetic disorders: examples, detection, and confirmation

Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron...

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Dettagli Bibliografici
Pubblicato in:J Appl Genet
Autori principali: Anna, Abramowicz, Monika, Gos
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060985/
https://ncbi.nlm.nih.gov/pubmed/29680930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-018-0444-7
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