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Scholarly Article or Book Chapter | Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene | ID: m900nw69t | Carolina Digital Repository
Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene - Al‐Hage - 2020 - Clinical and Experimental Dermatology - Wiley Online Library
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings | Lipids in Health and Disease | Full Text
PDF] A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene | Semantic Scholar
ABHD5 Gene - GeneCards | ABHD5 Protein | ABHD5 Antibody
Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator | Scientific Reports
Genes | Free Full-Text | Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond - ScienceDirect
Frontiers | Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
The lipid-droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4 | Nature Metabolism
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome | European Journal of Translational Myology
PDF) A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene | Hamed Heidary - Academia.edu
By Stephen Monahan. Genes on chromosome 3 include ABHD5,ALAS1, AMT,ATP2B2, and BCHE Chromosome 3 contains between 1,100 to 1,500 genes where ABHD5,ALAS1, - ppt download