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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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Bibliografische gegevens
Gepubliceerd in:J Clin Endocrinol Metab
Hoofdauteurs: Li, Dong, Bupp, Caleb, March, Michael E, Hakonarson, Hakon, Levine, Michael A
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
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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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