Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Autor: Zhang, Chuan1,2,3 (AUTHOR), Yan, Yousheng4 (AUTHOR), Zhou, Bingbo1 (AUTHOR), Wang, Yupei1 (AUTHOR), Tian, Xinyuan1 (AUTHOR), Hao, Shengju1 (AUTHOR), Ma, Panpan1 (AUTHOR), Zheng, Lei1 (AUTHOR), Zhang, Qinghua1 (AUTHOR), Hui, Ling1 (AUTHOR), Wang, Yan1 (AUTHOR), Cao, Zongfu2 (AUTHOR) zongfu_cao@163.com, Ma, Xu2,3 (AUTHOR) maxubioinfo@163.com
Zdroj: Orphanet Journal of Rare Diseases. 5/26/2023, Vol. 18 Issue 1, p1-10. 10p.
Databáze: Academic Search Ultimate
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