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المؤلفون: Federico Baronio, Antonio Balsamo, Soara Menabo, Wolfgang G. Sippell, Felix G. Riepe, Monia Gennari, Alessandro Cicognani
المساهمون: A.Balsamo, A.Cicognani, M.Gennari, W.G.Sippell, S.Menabò, F.Baronio, F.G.Riepe
المصدر: European Journal of Endocrinology. 156:249-256
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hydrocortisone, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Population, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Transactivation, Endocrinology, Gene Frequency, PSEUDOHYPOALDOSTERONISM TYPE 1, Internal medicine, medicine, Humans, NR3C2 Gene, SNP, Frameshift Mutation, education, Aldosterone, Gene, FUNCTIONAL STUDIES, Genetics, Mutation, education.field_of_study, HMR POLYMORPHISMS, General Medicine, NR3C2 GENE MUTATIONS, medicine.disease, Pedigree, Receptors, Mineralocorticoid, Italy, Codon, Nonsense, Child, Preschool, Protein Biosynthesis, Female
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2148f645bf63f6521bf8feabcefdc0b8Test
https://doi.org/10.1530/eje.1.02330Test -
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المؤلفون: Silvia Einaudi, Géza Fejes-Tóth, A Testa, Michael Peter, Joachim Grötzinger, Nils Krone, Johannes Finkeldei, Wolfgang G. Sippell, Beate Karges, Felix G. Riepe, Matthias Viemann, Luisa De Sanctis
المصدر: The Journal of Clinical Endocrinology & Metabolism. 91:4552-4561
مصطلحات موضوعية: Male, Models, Molecular, Transcriptional Activation, medicine.medical_specialty, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Clinical Biochemistry, Mutant, Gene Expression, Context (language use), Biology, Transfection, medicine.disease_cause, Biochemistry, Protein Structure, Secondary, Frameshift mutation, Mice, Imaging, Three-Dimensional, Endocrinology, Mineralocorticoid receptor, Internal medicine, medicine, Animals, Humans, NR3C2 Gene, Tissue Distribution, Amino Acid Sequence, Child, Cells, Cultured, Genetics, Mutation, Sequence Homology, Amino Acid, Biochemistry (medical), medicine.disease, Phenotype, Pedigree, Protein Transport, Receptors, Mineralocorticoid, Child, Preschool, Female, Mutant Proteins, Rabbits
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8273b032ce0cd482f15c5affa49621dfTest
https://doi.org/10.1210/jc.2006-1161Test