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Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance

Autor: Elena Laspa, Agathocles Tsatsoulis, Harald Jüppner, Murat Bastepe

Publikováno v: The Journal of clinical endocrinology and metabolism. 89(12)

The predominant feature of pseudohypoparathyroidism (PHP) is renal resistance to PTH. Pseudohypoparathyroidism type Ia (PHP-Ia) is caused by maternally inherited heterozygous mutations in the GNAS exons encoding the α-subunit of the stimulatory G pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3640f9353c77108b88d9f72cd9a1fbb2
https://pubmed.ncbi.nlm.nih.gov/15579741

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