Article
[Clinical characteristics and mutation analysis of the LKB1 gene in a Peutz-Jeghers syndrome pedigree].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2013
Pan Jian, Li Mei, Jin Yu, Zhang Xiao-mei, Zhu Ming, Chen Sen-qing
Abstract excerpt
OBJECTIVE: To investigate clinical characteristics and mutation of the LKB1 gene in a Peutz-Jeghers syndrome (PJS) pedigree. METHOD: Clinical data of a PJS family were analyzed and LKB1 gene mutation was detected by systematic screening with multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing. Meanwhile, two hundred and fifty healthy adults were enrolled in this study and denaturing high...
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