Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

Abstract Background Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer. Methods A male meeting the clinical diagnostic criteria for...

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Bibliographic Details
Main Authors: Thorkild Terkelsen, Ole H. Larsen, Søren Vang, Uffe B. Jensen, Friedrik Wikman
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
germline mutation
LKB1
Peutz–Jeghers syndrome
RNA‐Seq
splice variant
STK11
Online Access:https://doi.org/10.1002/mgg3.1381

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