A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. This study aimed to diagnose a Chinese pedigree with PJS and to expand the spectrum of STK11 variants. METHODS: We performed an inductive analys...

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Detalles Bibliográficos
Autores principales: Yu, Zhen, Liu, Lin, Jiang, Fang, Ji, Yimin, Wang, Xiao, Liu, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784088/
https://www.ncbi.nlm.nih.gov/pubmed/36550395
http://dx.doi.org/10.1186/s12876-022-02617-y

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