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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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Bibliografische gegevens
Gepubliceerd in:Bone
Hoofdauteurs: Reyes, Monica, Karaca, Anara, Bastepe, Murat, Gulcelik, Nese Ersoz, Jüppner, Harald
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
Onderwerpen:
Online toegang: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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