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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Detalles Bibliográficos
Autores principales: Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077524/
https://www.ncbi.nlm.nih.gov/pubmed/32061156
http://dx.doi.org/10.1530/EC-20-0026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077524/
https://www.ncbi.nlm.nih.gov/pubmed/32061156
http://dx.doi.org/10.1530/EC-20-0026

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