A carregar...

Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz–Jeghers Syndrome: Bioinformatic and Molecular Evidence

Peutz–Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80–90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait s...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Cerasuolo, Andrea, Cammarota, Francesca, Duraturo, Francesca, Staiano, Annamaria, Martinelli, Massimo, Miele, Erasmo, Izzo, Paola, De Rosa, Marina
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7662643/
https://ncbi.nlm.nih.gov/pubmed/33147782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21218201
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!