A novel pathogenic splice site variation in STK11 gene results in Peutz –Jeghers syndrome
ConclusionWe identified a novel heterozygous mutation (c.921-2 A>C) in theSTK11 in a Chinese PJS family. Haploinsufficiency of STK11 might contribute to the pathogenesis of the disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Na Zhao,
Huizhi Wu,
Ping Li,
Yuxian Wang,
Li Dong,
Han Xiao,
Changxin Wu Tags: ORIGINAL ARTICLE Source Type: research
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