The mechanism through which novel single nucleotide variants lead to Noonan syndrome
碩士 === 國立成功大學 === 臨床醫學研究所 === 102 === Abstract Noonan Syndrome (NS), one of the most common developmental diseases, is an autosomal genetic disorder that may occur sporadically or be inherited. NS is caused by germline mutations in genes encoding RAS-ERK signaling pathway. NS, affected about 1 in 1...
| Main Authors: | , |
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| Other Authors: | |
| Format: | Others |
| Language: | en_US |
| Published: |
2014
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| Online Access: | http://ndltd.ncl.edu.tw/handle/wzwt5x |