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Publications by Caroline Lefèvre
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
American Journal of Human Genetics
Genetics
Related publications
A New Patient of Chanarin Dorfman Syndrome in Egypt
Archives of Clinical and Medical Case Reports
A New Patient of Chanarin Dorfman Syndrome in Egypt
Archives of Clinical and Medical Case Reports
Chanarin-Dorfman Syndrome
Clinical and Experimental Dermatology
Dermatology
Severe Oily Ichthyosis in Monozygotic Twins Mimicking Chanarin-Dorfman Syndrome but Not Associated With a Mutation of the CGI58 Gene
Archives of Dermatology
Clinical and Genetic Characterization of a Chanarin Dorfman Syndrome Patient Born to Diseased Parents
BMC Medical Genetics
Genetics
Early Onset of Chanarin-Dorfman Syndrome With Severe Liver Involvement in a Patient With a Complex Rearrangement of ABHD5 Promoter
BMC Medical Genetics
Genetics
Heterogeneous Mutations in the Human Lipoprotein Lipase Gene in Patients With Familial Lipoprotein Lipase Deficiency.
Journal of Clinical Investigation
Medicine
Overexpression and Properties of a New Thermophilic and Thermostable Esterase From Bacillus Acidocaldarius With Sequence Similarity to Hormone-Sensitive Lipase Subfamily
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
New DGK Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
Archives of Neurology
