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المؤلفون: Edina Szabó, Henriette Farkas, Dorottya Csuka, Lilian Varga, Anna Dóczy
المصدر: Genes
Volume 12
Issue 3
Genes, Vol 12, Iss 402, p 402 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:QH426-470, Gene mutation, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, immune system diseases, Genetics, Angiopoietin-1, Medicine, Humans, cardiovascular diseases, skin and connective tissue diseases, Gene, biorepository, Genetics (clinical), Genetic testing, Factor XII, medicine.diagnostic_test, business.industry, Kininogens, Angioedemas, Hereditary, medicine.disease, hereditary angioedema, lcsh:Genetics, 030104 developmental biology, family screening, 030228 respiratory system, Mutation (genetic algorithm), Hereditary angioedema, Mutation testing, plasminogen, Female, Sulfotransferases, mutation, business, Complement C1 Inhibitor Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea8ac5c192f7de0adc8ed7c1c193c754Test
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المؤلفون: Fozia Fozia, Hafiz Majid Mahmood, Abdul Nasir, Saadullah Khan, Muhammad Sohaib, Sher Alam Khan, Rubina Nazli, Siddique Akber Ansari, Ahmed Bari, Sulman Basit, Abdulrahman M. Al-Obaid, Riaz Ullah
المصدر: Genes
Genes, Vol 12, Iss 373, p 373 (2021)
Volume 12
Issue 3مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, lcsh:QH426-470, TGM1 and SPINK5, Biology, Filaggrin Proteins, Article, whole exome sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, Consanguinity, 0302 clinical medicine, Congenital ichthyosis, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Pakistan, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Transglutaminases, Ichthyosis, Homozygote, S100 Proteins, medicine.disease, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Case-Control Studies, Mutation, Etiology, symbols, Serine Peptidase Inhibitor Kazal-Type 5, Female, Sulfotransferases, splice site variant, Ichthyosis vulgaris
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b639227b5c722513fd698bc6606562fdTest
http://europepmc.org/articles/PMC7999895Test