Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum

Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum

Mutations in the gene encoding bilirubin UDP-glucuronosyltransferase (UGT1A1) are known to cause Crigler–Najjar syndrome type II (CN-II). We previously encountered a patient with a nonsense mutation (Q331X) on one allele and with no other mutations in the promoter region or other exons, and proposed...

Full description

Bibliographic Details
Main Authors: Suzuki, Masahiro, Hirata, Marie, Takagi, Miho, Watanabe, Taiichi, Iguchi, Tomohiro, Koiwai, Kotaro, Maezawa, So, Koiwai, Osamu
Format: Online
Language:English
Published: Nature Publishing Group 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973126/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973126/

Similar Items