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المؤلفون: Annette Grüters, Elisabeth Marcos, Valère Cacheux, Bénédicte Duriez, Heiko Krude, Michel Goossens, Irene Netchine, Dirk Schnabel, Marie Laure Sobrier, Serge Amselem, Arpard V. Moers, M. Maghnie
المصدر: Nature genetics. 25(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Rotation, DNA Mutational Analysis, LIM-Homeodomain Proteins, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Exon, Consanguinity, Anterior pituitary, Pituitary Gland, Anterior, Pituitary Hormones, Anterior, Internal medicine, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Amino Acid Sequence, Cloning, Molecular, Gene, Sequence Deletion, Homeodomain Proteins, Mutation, Base Sequence, Exons, Syndrome, Physical Chromosome Mapping, Pedigree, Endocrinology, medicine.anatomical_structure, Cervical Vertebrae, Homeobox, Female, Corticotropic cell, LHX3, Chromosomes, Human, Pair 9, Sequence Alignment, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e168298d05e99bdbecd068b2a32d15dTest
https://pubmed.ncbi.nlm.nih.gov/10835633Test -
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المؤلفون: W Luck, Annette Grüters, Georg Brabant, Rüdiger Horn, Heiko Krude, Heike Biebermann
المصدر: Nature genetics. 19(2)
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, Prohormone, DNA Mutational Analysis, Biology, Compound heterozygosity, Exon, Adrenocorticotropic Hormone, Internal medicine, Genetics, Adrenal insufficiency, medicine, Humans, Obesity, Protein Precursors, Child, Frameshift Mutation, Hair Color, Melanocortins, Setmelanotide, digestive, oral, and skin physiology, Exons, medicine.disease, Pro-Opiomelanocortin Deficiency, Endocrinology, Phenotype, Mutation, Female, Melanocortin, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Adrenal Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c51fa9215af008e46218b2970b94f65Test
https://pubmed.ncbi.nlm.nih.gov/9620771Test