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 MJ
Dehghani SM
Source :: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1805. Date of Electronic Publication: 2021 Sep 21.
Publication Year :: 2021

Subjects :: Crigler-Najjar Syndrome diagnosis
Humans
Infant
Male
Phenotype
Crigler-Najjar Syndrome genetics
Glucuronosyltransferase genetics
Mutation, Missense

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