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Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B
CONTEXT: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by inactivating mutations in the exons of GNAS that encode the alpha-subunit of the stimulatory G protein (G(s)α). In some cases abnormal methylation of exon A/B of GNAS, a hallmark of PHP1B, has b...
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| Gepubliceerd in: | J Clin Endocrinol Metab |
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| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Oxford University Press
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7947960/ https://ncbi.nlm.nih.gov/pubmed/32436958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa286 |
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