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
Nejčtenější 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