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[PNPLA1 mutations in autosomal recessive congenital ichtyosis]. 2017

O Dereure
Département de dermatologie et unité Inserm U1058, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: o-dereure@chu-montpellier.fr.

UI MeSH Term Description Entries
D008049 Lipase An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3. Triacylglycerol Lipase,Tributyrinase,Triglyceride Lipase,Acid Lipase,Acid Lipase A,Acid Lipase B,Acid Lipase I,Acid Lipase II,Exolipase,Monoester Lipase,Triacylglycerol Hydrolase,Triglyceridase,Triolean Hydrolase,Hydrolase, Triacylglycerol,Hydrolase, Triolean,Lipase A, Acid,Lipase B, Acid,Lipase I, Acid,Lipase II, Acid,Lipase, Acid,Lipase, Monoester,Lipase, Triglyceride
D004283 Dog Diseases Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used. Canine Diseases,Canine Disease,Disease, Canine,Disease, Dog,Diseases, Canine,Diseases, Dog,Dog Disease
D004285 Dogs The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065) Canis familiaris,Dog
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D017490 Ichthyosis, Lamellar A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. Erythroderma Ichthyosiforme, Nonbullous,Harlequin Fetus,Ichthyosiform Erythroderma, Nonbullous Congenital,Collodion Baby Syndrome,Collodion Fetus,Congenital Ichthyosiform Erythroderma, Nonbullous,Congenital Nonbullous Ichthyosiform Erythroderma,Desquamation of Newborn,Harlequin Baby Syndrome,Harlequin Ichthyosis,Ichthyoses, Lamellar,Ichthyosis Congenita,Ichthyosis Congenita I,Ichthyosis Congenita II,Ichthyosis, Lamellar, 1,Lamellar Exfoliation of Newborn,Lamellar Ichthyoses,Lamellar Ichthyosis,Lamellar Ichthyosis, Type 1,Nonbullous Congenital Ichthyosiform Erythroderma,Nonbullous Congenital Lamellar Ichthyosis,Baby Syndrome, Collodion,Baby Syndrome, Harlequin,Baby Syndromes, Collodion,Baby Syndromes, Harlequin,Collodion Baby Syndromes,Congenita II, Ichthyosis,Congenita IIs, Ichthyosis,Erythroderma Ichthyosiformes, Nonbullous,Fetus, Collodion,Fetus, Harlequin,Harlequin Baby Syndromes,Harlequin Ichthyoses,Ichthyose, Lamellar,Ichthyoses, Harlequin,Ichthyosiforme, Nonbullous Erythroderma,Ichthyosiformes, Nonbullous Erythroderma,Ichthyosis Congenita IIs,Ichthyosis, Harlequin,Lamellar Ichthyose,Newborn Desquamation,Newborn Desquamations,Newborn Lamellar Exfoliation,Newborn Lamellar Exfoliations,Nonbullous Erythroderma Ichthyosiforme,Nonbullous Erythroderma Ichthyosiformes,Syndrome, Collodion Baby,Syndrome, Harlequin Baby,Syndromes, Collodion Baby,Syndromes, Harlequin Baby
D056726 Genetic Association Studies The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. Candidate Gene Identification,Candidate Gene Analysis,Candidate Gene Association Studies,Candidate Gene Association Study,Gene Discovery,Genotype-Phenotype Association,Genotype-Phenotype Associations,Genotype-Phenotype Correlation,Genotype-Phenotype Correlations,Analyses, Candidate Gene,Analysis, Candidate Gene,Association Studies, Genetic,Association Study, Genetic,Association, Genotype-Phenotype,Associations, Genotype-Phenotype,Candidate Gene Analyses,Correlation, Genotype-Phenotype,Correlations, Genotype-Phenotype,Discovery, Gene,Gene Analyses, Candidate,Gene Analysis, Candidate,Gene Identification, Candidate,Genetic Association Study,Genotype Phenotype Association,Genotype Phenotype Associations,Genotype Phenotype Correlation,Genotype Phenotype Correlations,Identification, Candidate Gene,Studies, Genetic Association,Study, Genetic Association

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