Yüklüyor......

Molecular Definition of Pseudohypoparathyroidism Variants

Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-su...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Clin Endocrinol Metab
Yazar: Jüppner, Harald
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8118362/
https://ncbi.nlm.nih.gov/pubmed/33529330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgab060
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!