Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro

Published:2006-11 Issue:11 Volume:27 Page:1159-1159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kim Gu-Hwan,Choi Jin-Ho,Lee Hyung-Haon,Park Sangwook,Kim Sung-Su,Yoo Han-Wook

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 14 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. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency;BMC Pregnancy and Childbirth;2024-07-22

2. Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy;Annals of Internal Medicine: Clinical Cases;2024-05-01

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

4. Urea cycle disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

5. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency;Medical Science Monitor;2018-10-18

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP