Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

BACKGROUND: Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer. METHODS: A male meeting the clinical diagnostic criteria for Peutz–J...

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Detalles Bibliográficos
Autores principales: Terkelsen, Thorkild, Larsen, Ole H., Vang, Søren, Jensen, Uffe B., Wikman, Friedrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507455/
https://www.ncbi.nlm.nih.gov/pubmed/32573125
http://dx.doi.org/10.1002/mgg3.1381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507455/
https://www.ncbi.nlm.nih.gov/pubmed/32573125
http://dx.doi.org/10.1002/mgg3.1381

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