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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
BACKGROUND: Pseudohypoparathyroidism (PHP) defines a rare group of disorders whose common feature is resistance to the parathyroid hormone. Patients with PHP-Ia display additional hormone resistance, Albright hereditary osteodystrophy (AHO) and reduced Gsα activity in easily accessible cells. This f...
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主要な著者: | , , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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2009
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オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3030964/ https://ncbi.nlm.nih.gov/pubmed/19858129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.071001 |
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