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- Title
Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1.
- Authors
Ghorbani, Mohammad Javad; Dehghani, Seyed Mohsen
- Abstract
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.
- Subjects
MISSENSE mutation; GENETIC mutation; MEDICAL genetics; MEDICAL personnel; GENETIC variation; BINDING sites
- Publication
Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 11, p1
- ISSN
2324-9269
- Publication type
Academic Journal
- DOI
10.1002/mgg3.1805