基因检测
副神经节瘤
生殖系
嗜铬细胞瘤
索引
点突变
医学
DNA测序
突变
生物
内科学
种系突变
基因型
生物信息学
遗传学
DNA
病理
基因
单核苷酸多态性
作者
Laurène Ben Aim,Pascal Pigny,Luis Jaime Castro‐Vega,Alexandre Buffet,Laurence Amar,Jérôme Bertherat,D. Drui,Isabelle Guilhem,Éric Baudin,Charlotte Lussey‐Lepoutre,Carole Corsini,G. Chabrier,Claire Briet,Laurence Faivre,Catherine Cardot-Bauters,Judith Favier,Anne‐Paule Gimenez‐Roqueplo,Nelly Burnichon
标识
DOI:10.1136/jmedgenet-2018-105714
摘要
The analysis of 824 DNAs from patients with PPGL demonstrated that NGS assay significantly improves the performances of PPGL genetic testing compared with conventional methods, increasing the rate of identified mutations and identifying rare genetic mechanisms.
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