Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency-Reference-Cited by-同舟云学术

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

Published:1997-11 Issue:6 Volume:20 Page:769-777
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

García-Pérez M. A.¹,Climent C.¹,Briones P.²,Vilaseca M. A.²,Rodés M.²,Rubio V.¹³

Affiliation:

1. Instituto de Investigaciones Citológicas; Fundación Valenciana de Investigaciones Biomédicas and CSIC; Valencia Spain

2. Institut de Bioquímica Clínica; Corporació Sanitària and CSIC; Cerdanyola de Vallés Spain

3. ; Instituto de Investigaciones Citológicas; C/Amadeo de Saboya, 4 Valencia 46010 Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005363600268/fullpdf

Reference29 articles.

1. Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification;Briand;Biochim Biophys Acta,1982

2. Ornithine-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences;Brody;J Biol Chem,1992

3. A rapid, batch method for purifying ornithine transcarbamylase based on affinity chromatography using immobilized transition-state analog;De Martinis;Biochem Int,1981

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