Molecular Genetics & Genomic Medicine - Číslo 3/2016

Original article

262

Capture-based next-generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing

Jing Xie, †, Xiongxiong Lu, †, Xue Wu, Xiaoyi Lin, Chao Zhang, Xiaofang Huang, Zhili Chang, Xinjing Wang, Chenlei Wen, Xiaomei Tang, Minmin Shi, Qian Zhan, Hao Chen, Xiaxing Deng, Chenghong Peng, Hongwei Li, Yuan Fang, Yang Shao, Baiyong Shen

283

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

Akl C. Fahed, Ruby Khalaf, Rony Salloum, Rabih R. Andary, Raya Safa, Inaam El-Rassy, Elie Moubarak, Sami T. Azar, Fadi F. Bitar, Georges Nemer

Molecular Genetics & Genomic Medicine

2016 Číslo 3

Najčítanejšie v tomto čísle

Capture-based next-generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy