High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Author:

Ravn Kirstine,Chloupkova Maja,Christensen Ernst,Brandt Niels Jacob,Simonsen Henrik,Kraus Jan P.,Nielsen Inge Merete,Skovby Flemming,Schwartz Marianne

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Disorders of propionate and malonate metabolism;Fenton,1995

2. Origin and evolution of native American mtDNA variation: a reappraisal;Forster;Am J Hum Genet,1996

3. Isolation and characterization of propionyl-CoA carboxylase from normal human liver;Kalousek;J Biol Chem,1980

4. Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli;Kelson;Hum Mol Genet,1996

5. Coding sequence of the precursor of the β subunit of the rat propionyl CoA carboxylase;Kraus;Proc Natl Acad Sci USA,1986

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