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

Autor: Massimo Martinelli, Francesca Cammarota, Andrea Cerasuolo, Erasmo Miele, Francesca Duraturo, Annamaria Staiano, Paola Izzo, Marina De Rosa

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 8201, p 8201 (2020)

Peutz&ndash
Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80&ndash
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

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