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المؤلفون: Harjama, L., Karvonen, V., Kettunen, K., Elomaa, O., Einarsdottir, Elisabet, Heikkilä, H., Kivirikko, S., Ellonen, P., Saarela, J., Ranki, A., Kere, J., Hannula-Jouppi, K.
المصدر: Journal of the European Academy of Dermatology and Venereology. 35(9):1874-1880
مصطلحات موضوعية: aquaporin 5, cytokeratin 9, AAGAB protein, human, Ly antigen, serine proteinase inhibitor, SERPINB7 protein, SLURP1 protein, urokinase, vesicular transport adaptor protein, AAGAB gene, adolescent, adult, AQP5 gene, Article, child, diffuse palmoplantar keratoderma, disease classification, female, focal palmoplantar keratoderma, gene, gene mutation, genetic disorder, hereditary palmoplantar keratoderma, KRT9 gene, major clinical study, male, palmoplantar keratoderma, phenotype, punctate palmoplantar keratoderma, SERPINB7 gene, SLURP1 gene, whole exome sequencing, genetics, mutation, pedigree, Adaptor Proteins, Vesicular Transport, Antigens, Ly, Humans, Keratoderma, Palmoplantar, Diffuse, Serpins, Urokinase-Type Plasminogen Activator
وصف الملف: print
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المؤلفون: Ana C Gómez-García, Stephane M Díaz-Montes, Oscar R. Fajardo-Ramírez, Rossana Mendoza-Meza, Julio C. Salas-Alanis, Nathaly Bar-Fernandez
المصدر: Acta Dermatovenerologica Alpina Pannonica et Adriatica. 30
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Dermatology, medicine.disease, Stop codon, Infectious Diseases, AAGAB gene, Mutation (genetic algorithm), Medicine, skin and connective tissue diseases, business, Keratoderma, Punctate palmoplantar keratoderma, Gene, Novel mutation, After treatment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::53d58beabbb342fc5d052898806fff05
https://doi.org/10.15570/actaapa.2021.11 -
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المؤلفون: Toshifumi Nomura, Alan D. Irvine, M. Zamiri, Colin S. Munro, Ons Mamaï, Margaret S. Robinson, Akihiro Suehiro, Jennifer Hirst, Hiroshi Shimizu, W.H. Irwin McLean, Masashi Akiyama, H. M. Horn, John A. McGrath, Elizabeth Pohler
المصدر: Journal of Dermatological Science. 69:e53
مصطلحات موضوعية: AAGAB gene, Chemistry, Adaptor Protein Complex gamma Subunits, Binding protein, Alpha (ethology), Dermatology, Molecular Biology, Biochemistry, Punctate palmoplantar keratoderma type 1, Molecular biology
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4مورد إلكتروني
مصطلحات الفهرس: aquaporin 5, cytokeratin 9, AAGAB protein, human, Ly antigen, serine proteinase inhibitor, SERPINB7 protein, SLURP1 protein, urokinase, vesicular transport adaptor protein, AAGAB gene, adolescent, adult, AQP5 gene, Article, child, diffuse palmoplantar keratoderma, disease classification, female, focal palmoplantar keratoderma, gene, gene mutation, genetic disorder, hereditary palmoplantar keratoderma, KRT9 gene, major clinical study, male, palmoplantar keratoderma, phenotype, punctate palmoplantar keratoderma, SERPINB7 gene, SLURP1 gene, whole exome sequencing, genetics, mutation, pedigree, Adaptor Proteins, Vesicular Transport, Antigens, Ly, Humans, Keratoderma, Palmoplantar, Diffuse, Serpins, Urokinase-Type Plasminogen Activator, Cancer and Oncology, Cancer och onkologi, Medical Genetics, Medicinsk genetik, Article in journal, info:eu-repo/semantics/article, text
URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-309625
Journal of the European Academy of Dermatology and Venereology, 0926-9959, 2021, 35:9, s. 1874-1880