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PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - e0161465
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the... 
SPHINGOLIPID METABOLISM | TRANSPORTER ABCA12 | GENE | MULTIDISCIPLINARY SCIENCES | GOLGI-APPARATUS | LAMELLAR GRANULES | EPIDERMAL-KERATINOCYTES | MICE | TERMINAL DIFFERENTIATION | MUTATIONS | PERMEABILITY BARRIER | Exons | Skin - metabolism | Ichthyosis, Lamellar - therapy | ATP-Binding Cassette Transporters - genetics | Base Sequence | Skin Transplantation | Skin - pathology | Disease Models, Animal | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Chromosome Mapping | Permeability | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Animals | Epidermis - ultrastructure | Ichthyosis, Lamellar - genetics | Keratinocytes - metabolism | Models, Biological | Alleles | Skin - ultrastructure | Mice | Mutation | Glucosylceramides - metabolism | Kallikreins - metabolism | Ichthyosis, Lamellar - pathology | Gene mutations | Physiological aspects | Genetic aspects | Skin | Research | Risk factors | Ichthyosis | Neonates | Animal models | Calcium | Transcription | Veterans | Lamellae | Lipids | Defects | Ceramide glucosyltransferase | Metabolites | Proteolysis | Ceramide | Skin diseases | Enzymes | Congenital diseases | Stratum corneum | Dermatology | Intracellular levels | Secretion | Proteolytic enzymes | Kallikrein | Keratinocytes | Cell division | Epidermis | Metabolism | Ribonucleic acid--RNA | Mutants | Medicine | Pathology | Hypotheses | Index Medicus | RNA | Ribonucleic acid
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Journal Article
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