GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

OBJECTIVES: The homozygous GH receptor (GHR) pseudoexon (6Ψ) mutation leads to growth hormone insensitivity (GHI) with clinical and biochemical heterogeneity. We investigated whether transcript heterogeneity (6Ψ-GHR to WT-GHR transcript ratio) and/or concurrent defects in other short stature (SS) ge...

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Bibliografski detalji
Izdano u:Endocr Connect
Glavni autori: Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L
Format: Artigo
Jezik:Inglês
Izdano: Bioscientifica Ltd 2020
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7077524/
https://ncbi.nlm.nih.gov/pubmed/32061156
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-20-0026
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