Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.

In conclusion, this study expanded the genetic variation spectrum of UCD, gave solid evidence for counselling to the affected families, and should facilitate the functional study on the proteins in urea cycle.
PMID: 33611823 [PubMed - as supplied by publisher]

Source: J Cell Mol Med - February 21, 2021 Category: Molecular Biology Authors: Liu F, Bao LS, Liang RJ, Zhao XY, Li Z, Du ZF, Lv SG Tags: J Cell Mol Med Source Type: research