Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome-Reference-Cited by-同舟云学术

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Published:2001-11 Issue:5 Volume:69 Page:1002-1012
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lefèvre Caroline,Jobard Florence,Caux Frédéric,Bouadjar Bakar,Karaduman Aysen,Heilig Roland,Lakhdar Hakima,Wollenberg Andreas,Verret Jean-Luc,Weissenbach Jean,Özgüc Meral,Lathrop Mark,Prud'homme Jean-François,Fischer Judith

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis;Aksentijevich;Am J Hum Genet,1993

2. Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome;Braverman;Nat Genet,1999

3. Neutral-lipid storage disease: a new disorder of lipid metabolism;Chanarin;Br Med J,1975

4. Relationship between sequence conservation and three-dimensional structure in a large family of esterases, lipases, and related proteins;Cygler;Protein Sci,1993

5. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene;De Laurenzi;Nat Genet,1996

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