Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1.

Ghorbani, Mohammad Javad; Dehghani, Seyed Mohsen

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1 The absence of the UGT1A1 enzyme activity due to a defect in the I UGT1A1 i gene (UGT1A1; MIM# 191740) result in CN-I (Gailite et al., 2020). Patients with CN-II have residual UGT1A1 enzyme activity.

MISSENSE mutation; GENETIC mutation; MEDICAL genetics; MEDICAL personnel; GENETIC variation; BINDING sites

Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 11, p1

2324-9269

Academic Journal

10.1002/mgg3.1805