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RF13 | PMON133 A novel variant in an intron consensus sequence associated with familial growth hormone deficiency

Splicing variants in the exon-intron boundaries of the GH1 gene have been reported to cause autosomal dominant growth hormone deficiency (GHD type 2). However, whether variants in the intron consensus sequence (XGGG repeats) have an important role in GH1 gene splicing has not been established. Two s...

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Detalles Bibliográficos
Autores principales: Jee, Youn Hee, Gangat, Mariam, Hauser, Benjamin, Mancuso, Bethany, Miller, Jennifer, Radovick, Sally
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625681/
http://dx.doi.org/10.1210/jendso/bvac150.1201