Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders-Reference-Cited by-同舟云学术

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

Published:2000-07 Issue:5 Volume:23 Page:441-447
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gregersen N.¹,Bross P.¹,Jørgensen M. M.¹,Corydon T. J.²,Andresen B. S.¹²

Affiliation:

1. ; Research Unit for Molecular Medicine; Aarhus University Hospital; Skejby Sygehus Aarhus N 8200 Denmark

2. ; Institute of Human Genetics; Aarhus University; Bartholinbuilding Aarhus C 8000 Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005663728291/fullpdf

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4. Partial characterization and threedimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria;Bjorgo;Eur J Biochem,1998

5. Familial hypertrophic cardiomyopathy: from mutations to functional defects;Bonne;Circ Res,1998

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