Results 221 to 230 of about 482,563 (236)

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

Journal of Inherited Metabolic Disease, 1995
K P, Zimmer, T, Matsuura, J P, Colombo, H G, Koch, K, Ullrich, T, Deufel, E, Harms, I, Matsuda   +7 more
openaire   +2 more sources

Asymptomatic and Late-Onset Ornithine Transcarbamylase (OTC) Deficiency in Males of a Five-Generation Family, Caused by an A208T Mutation

Clinical Genetics, 1996
Otto P van Diggelen, J L M Keulemans, M G Ausems   +2 more
exaly  

Ornithine Transcarbamylase Deficiency (OTC)

2008
openaire   +1 more source

OTC Gene in Ornithine Transcarbamylase Deficiency: Clinical Course and Mutational Spectrum in Seven Korean Patients

Pediatric Neurology, 2014
Han-Wook Yoo, Jung Hyun Lee, Gu-Hwan Kim
exaly  

Deep intronic variants as a cause of OTC deficiency

Molecular Genetics and Metabolism
Shawn McCandless, Nicole M. Garcia Tubéns, Uyen Ly, Sujatha Jagannathan, Tamim Shaikh, Curtis Coughlin   +5 more
openaire   +1 more source

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

Human Mutation, 2006
Han-Wook Yoo, Gu-Hwan Kim, Jin-Ho Choi
exaly  

Familial Lethal Inheritance of a Mutated Paternal Gene in Females Causing X-Linked Ornithine Transcarbamylase (OTC) Deficiency

American Journal of Medical Genetics, Part A, 1997
K Oyanagi, K Kiwaki, R Hoshide
exaly  

Disruption of OTC Promoter-Enhancer Interaction in a Patient With Symptoms of Ornithine Carbamoyltransferase Deficiency

Human Mutation, 2010
Milan Jirsa, Lenka Dvořáková, Gabriela Štorkánová   +2 more
exaly  

Gene Therapy of Metabolic Disease: OTC Deficiency, a Paradigm

Journal of Vascular and Interventional Radiology, 2000
openaire   +1 more source

Identification of Seven Novel Missense Mutations, Two Splice-Site Mutations, Two Microdeletions and a Polymorphic Amino Acid Substitution in the Gene for Ornithine Transcarbamylase (OTC) in Patients With OTC Deficiency

Human Mutation, 2002
Vicente Rubio
exaly