Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene

We report a STK11 splicing variant comprising a 131-bp insertion that is derived from intron 1, which has previously been reported to possess potent pathogenicity. The same variant was detected in a Peutz–Jeghers syndrome patient harboring a genomic deletion in the vicinity of exon 1 of the STK11 ge...

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Detalles Bibliográficos
Autores principales: Masuda, Kenta, Kobayashi, Yusuke, Kimura, Tokuhiro, Umene, Kiyoko, Misu, Kumiko, Nomura, Hiroyuki, Hirasawa, Akira, Banno, Kouji, Kosaki, Kenjiro, Aoki, Daisuke, Sugano, Kokichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775769/
https://www.ncbi.nlm.nih.gov/pubmed/27081568
http://dx.doi.org/10.1038/hgv.2016.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775769/
https://www.ncbi.nlm.nih.gov/pubmed/27081568
http://dx.doi.org/10.1038/hgv.2016.2

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