A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

Medicine and Dentistry

• Gene 100%
• Patient 83%
• Syndrome 66%
• Hyperlipidemia 33%
• Exon 33%
• Pityriasis Rubra Pilaris 33%
• Lipid 16%
• Genetic Screening 16%
• Clinical Feature 16%
• Missense Mutation 16%
• Lipid Metabolism 16%
• Autosomal Recessive Disorder 16%
• Hepatomegaly 16%
• Fat Droplet 16%
• Fatty Liver 16%
• Lamellar Ichthyosis 16%
• Gene Function 16%
• Genomic DNA 16%
• Skin Defect 16%
• Nonalcoholic Fatty Liver 16%
• Intron 16%
• Mutant Protein 16%
• Protein Structure 16%
• Neuromuscular System 16%
• Analysis 16%
• Parent 16%
• Skin 16%
• Male 16%
• Liver 16%

Biochemistry, Genetics and Molecular Biology

• Nested Gene 100%
• Mutation 50%
• Hyperlipidemia 33%
• Bioinformatics 33%
• Missense Mutation 16%
• Lipid Metabolism 16%
• Lipid Droplet 16%
• Intron 16%
• Mutant Protein 16%
• Protein Structure 16%
• Genetic Screening 16%
• Sample 16%
• Time 16%
• DNA 16%
• Genetics 16%
• Sequencing 16%
• Gene Function 16%