A Clinical and Molecular Genetic Study in 11 Chinese Children With Peutz-Jeghers Syndrome

Conclusions: MLPA plus direct sequencing revealed large genomic deletions of STK11 gene in Chinese children with PJS and increased the detecting rate of STK11 gene mutations in Chinese patients with PJS. MLPA combined with direct sequencing could serve as a better strategy for the genetic diagnosis of PJS in Chinese population.
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research