A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome

BACKGROUND: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK1...

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Detalles Bibliográficos
Autores principales: Zhao, Na, Wu, Huizhi, Li, Ping, Wang, Yuxian, Dong, Li, Xiao, Han, Wu, Changxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404226/
https://www.ncbi.nlm.nih.gov/pubmed/34080793
http://dx.doi.org/10.1002/mgg3.1729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404226/
https://www.ncbi.nlm.nih.gov/pubmed/34080793
http://dx.doi.org/10.1002/mgg3.1729

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