Establishment of next-generation sequencing (NGS)-based genetic testing for tuberous sclerosis complex (TSC)
碩士 === 國立臺灣大學 === 分子醫學研究所 === 102 === Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder. One third of patients are familial cases and two thirds are sporadic cases caused by de novo mutations. The disease is estimated to occur in 1:6000 live births worldwide with nearly eq...
Main Authors: | , |
---|---|
Other Authors: | |
Format: | Others |
Language: | zh-TW |
Published: |
2014
|
Online Access: | http://ndltd.ncl.edu.tw/handle/74792819181891655423 |