Mutations and polymorphisms in the human ornithine transcarbamylase gene.
about
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateOrnithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D.AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene delivery.Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differHyperammonemia, bane of the brain.Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.Potential of AAV vectors in the treatment of metabolic disease.Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report.Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.Pharmacogenetics in reproductive and perinatal medicine.Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.Neuropsychiatric manifestations in late-onset urea cycle disorder patients.In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.Novel mutation in OTC gene causes neonatal death in twin brothers.Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsMutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutationMutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the Gene
P2860
Q28081467-82A23B7D-71F6-4120-BA7F-6D3D70CCBCBBQ33476720-AE7DA3AE-3AB2-4937-BDDE-C192C76590C9Q33503928-6A7D37B0-E374-4D3D-9525-636DE757518EQ33713894-9A5B301B-344F-4711-96C0-D081EF204A46Q34645366-F390013A-8E19-4787-A54A-076AB5A987D8Q34994539-81570B64-9CBF-4915-A671-FDB7398D5C30Q35632989-918E17F3-0DA9-40B4-8B69-2E279EF4D855Q35923332-594536DC-C1DB-4B4A-AC86-A691917C90A9Q35929018-ABA8CF23-038F-4AA4-809F-5135D3DD0CDCQ36948041-C8D3B4A8-2350-4371-929D-C532C483A79CQ37049050-F7C128F1-DA8C-4CCA-B19A-83AF3BC2621BQ37134001-7815B497-8864-4E0C-A46F-90CDE13E0BD4Q37220603-9A228169-D1FD-44CE-B46E-99E0C30D30FAQ37278244-50960FC6-84C2-4917-BF09-FCDAE841AA84Q37353667-1E8A17FE-3661-4010-8EAB-AAE2AD9CF148Q37657531-9D33FEBF-BE14-4041-871D-441883339088Q40917900-69FB8270-60AB-4EE3-BA1E-54ACFCF8C70CQ42070519-F7AF9D81-1E18-49C2-B294-D618F844E5E0Q43291156-6CBD64A3-3D31-4F0C-A3BE-F0062D84D2E5Q43629638-73226740-2194-4FB0-8F76-9C329676FA24Q46905184-5B96AE50-8C78-4755-9274-FF6E45FFB602Q51283713-86E8E1BE-DB47-4650-AF64-8EEB3FA72D24Q51768884-152DE9DB-FEA5-4249-8AC4-F9043207F7CBQ52429666-791B1398-ABD4-4684-A084-0D8AC758ACB7Q57563199-BB1D501F-71BA-46B6-8D1C-34E2B2622966Q57987195-B3CC4666-B1F5-4458-BF23-0F5643B1FDB4Q58774403-FC0EBBE9-20D2-43C0-AD4A-B656CE7D2060Q58800079-7394A6FA-AAD0-42F7-8891-28187193F9D0
P2860
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@ast
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@en
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@nl
type
label
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@ast
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@en
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@nl
prefLabel
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@ast
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@en
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
@nl
P2093
P2860
P356
P1433
P1476
Mutations and polymorphisms in the human ornithine transcarbamylase gene
@en
P2093
Lisa Sheehy
Mendel Tuchman
Michael G Lynch
Naser Jaleel
P2860
P304
P356
10.1002/HUMU.10035
P577
2002-02-01T00:00:00Z