Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man-Reference-Cited by-同舟云学术

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

Published:2015-04-08 Issue:4 Volume:10 Page:e0122966
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Rivera-Barahona Ana,Sánchez-Alcudia Rocío,Viecelli Hiu Man,Rüfenacht Veronique,Pérez Belén,Ugarte Magdalena,Häberle Johannes,Thöny Beat,Desviat Lourdes Ruiz

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference43 articles.

1. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family;MG Ausems;Am J Med Genet,1997

2. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype;BA McCullough;Am J Med Genet,2000

3. GeneReviews;BC Lanpher,1993

4. Suggested guidelines for the diagnosis and management of urea cycle disorders;J Haberle;Orphanet J Rare Dis,2012

5. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene;S Yamaguchi;Hum Mutat,2006

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice;Human Molecular Genetics;2024-03-23

2. PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE;2023-11-05

3. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11

4. Modelling urea cycle disorders using iPSCs;npj Regenerative Medicine;2022-09-26

5. Restoring ornithine transcarbamylase (OTC) activity in an OTC‐deficient mouse model using LUNAR‐OTC mRNA;Clinical and Translational Discovery;2022-04-07