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A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B
GNAS exons 1–13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified allele. Pseudohypoparathyro...
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| 出版年: | Bone |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5943703/ https://ncbi.nlm.nih.gov/pubmed/28711660 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2017.07.013 |
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