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المؤلفون: John T. Anim, Jemima E. Mellerio, Linda Ozoemena, Arti Nanda, Hejab Al-Ajmi, Lu Liu, Qasem A. Alsaleh, Suad AlFadhli, John A. McGrath
المصدر: International Journal of Dermatology. 57:1058-1067
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Collagen Type VII, Dystonin, Biopsy, Genes, Recessive, Dermatology, Consanguinity, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, Exome, Exome sequencing, Genes, Dominant, Skin, Sanger sequencing, Transglutaminases, medicine.diagnostic_test, Molecular pathology, business.industry, Integrin beta4, Keratin-14, High-Throughput Nucleotide Sequencing, medicine.disease, Immunohistochemistry, 030104 developmental biology, Desmoplakins, Kuwait, Skin biopsy, symbols, Keratin-5, Female, gamma Catenin, Epidermolysis bullosa, Epidermolysis Bullosa, business, Cell Adhesion Molecules, Transglutaminase 5