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GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, whi...
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| I publikationen: | Hum Mutat |
|---|---|
| Huvudupphovsmän: | , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Blackwell Publishing Ltd
2015
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4309471/ https://ncbi.nlm.nih.gov/pubmed/25219572 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22696 |
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