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المؤلفون: Shuzhan Shen, Guolong Zhang, Ming Li, Xiuli Wang, Minhua Shao, Uma Keyal
المصدر: Molecular Medicine Reports
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, PLCD1, Mutation, Missense, Nails, Malformed, Disease, hereditary leukonychia, Biochemistry, Nail Diseases, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Genetic linkage, Koilonychia, Genetics, Humans, Medicine, Child, Molecular Biology, Gene, Hypopigmentation, phospholipase C δ 1 gene, business.industry, Articles, mutations, medicine.disease, Pedigree, koilonychia, 030104 developmental biology, Oncology, Chromosome 3, 030220 oncology & carcinogenesis, Leukonychia, Molecular Medicine, Female, medicine.symptom, business, Phospholipase C delta
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2Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function
المؤلفون: Jasmine Kew, Konrad Beck, Zili Sideratou, Maria Theodoridou, Pierre J. Rizkallah, George Nounesis, Brian L. Calver, F. Anthony Lai, Michail Nomikos, Angelos Thanassoulas, Junaid Kashir, Emily Matthews
المصدر: The FEBS Journal. 283:4502-4514
مصطلحات موضوعية: Models, Molecular, Phosphatidylinositol 4,5-Diphosphate, 0301 basic medicine, phospholipase C delta-1, medicine.disease_cause, Biochemistry, Enzyme Stability, Keratin, phospholipase C, Hypopigmentation, Genetics, chemistry.chemical_classification, Mutation, Circular Dichroism, Hydrolysis, Temperature, medicine.anatomical_structure, Nail (anatomy), Leukonychia, medicine.symptom, Protein Binding, Blotting, Western, Protein domain, RK, hereditary leukonychia, Biology, Nail Diseases, 03 medical and health sciences, Protein Domains, phosphatidylinositol 4,5-bisphosphate, medicine, Animals, Humans, Molecular Biology, Gene, Binding Sites, 030102 biochemistry & molecular biology, Cell Biology, medicine.disease, R1, Rats, Kinetics, 030104 developmental biology, chemistry, Nail disease, Biocatalysis, Calcium, mutation, Phospholipase C delta
وصف الملف: application/pdf