Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency-Reference-Cited by-同舟云学术

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

Published:1994 Issue:4 Volume:3 Page:402-406
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Matsuura Toshinobu,Hoshide Ryuuji,Kiwaki Kohji,Komaki Satoru,Koike Emiko,Endo Fumio,Oyanagi Kazuhiko,Suzuki Yoshimi,Kato Ineko,Ishikawa Kaoru,Yoda Hitoshi,Kamitani Shigeki,Sakaki Yoshiyuki,Matsuda Ichiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. (1989) Urea cycle enzymes. In (eds): The Metabolic Basis nt Inherited Disease. 6th Ed. New York: McGraw-Hill, pp 629-663

2. Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

3. Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

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

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3. Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males;Clinical Chemistry;2020-07-01

4. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD);PLOS ONE;2016-04-12

5. Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man;PLOS ONE;2015-04-08