Literature DB >> 8956045

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

B Ségues1, P S Veber, D Rabier, P Calvas, J M Saudubray, B Gilbert-Dussardier, J P Bonnefont, A Munnich.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8956045     DOI： 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  4 in total

1.  Under recognition of late onset ornithine transcarbamylase deficiency.

Authors:  R E Schultz; M K Salo
Journal:  Arch Dis Child       Date:  2000-05       Impact factor: 3.791

2.  Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.

Authors:  J A Arranz; E Riudor; C Marco-Marín; V Rubio
Journal:  J Inherit Metab Dis       Date:  2007-03-01       Impact factor: 4.750

3.  The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.

Authors:  Nicole Ducich; Nicholas Ah Mew; Jirair K Bedoyan
Journal:  Mol Genet Metab Rep       Date:  2020-05-08

4.  Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

Authors:  Ramon Santamaria; Maria Ballester; Guillem Garcia-Llorens; Francisco Martinez; Marina Blazquez; Carmen Ribes-Koninckx; Jose V Castell; Torsten Wuestefeld; Roque Bort
Journal:  Sci Rep       Date:  2022-02-10       Impact factor: 4.379
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.