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Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

BACKGROUND: Different types of pathogenic mutations may produce different clinical phenotypes, but a correlation between Peutz-Jeghers syndrome (PJS) genotype and clinical phenotype has not been found. Not all patients with PJS have detectable mutations of the STK11/LKB1 gene, what is the genetic ba...

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Detalles Bibliográficos
Autores principales: Gu, Guo-Li, Zhang, Zhi, Zhang, Yu-Hui, Yu, Peng-Fei, Dong, Zhi-Wei, Yang, Hai-Rui, Yuan, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554407/
https://www.ncbi.nlm.nih.gov/pubmed/34754157
http://dx.doi.org/10.3748/wjg.v27.i39.6631