Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum.

Autor: Han, Dong1 (AUTHOR), Wang, Lihong2 (AUTHOR), Zhao, Chen2 (AUTHOR), Li, Juan1 (AUTHOR), Huang, Chenggang3 (AUTHOR), Song, Wenxia4 (AUTHOR), Wang, Haiwei5 (AUTHOR), Li, Xiaoze1 (AUTHOR), Tao, Yilun1,6 (AUTHOR) yltao21@163.com
Zdroj: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-7. 7p.
Databáze: Academic Search Ultimate
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