A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome

Abstract UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (...

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Bibliographic Details
Main Authors: Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi
Format: Article
Language:English
Published: Nature Publishing Group 2025-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00307-7
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