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In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP

Introduction: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency in a patient who retains normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, are often splice-site or nonsense mutations resulting in a truncated...

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Detalles Bibliográficos
Autores principales:	Smith, Chris, Maharaj, Avinaash Vickram, Qamar, Younus, Read, Jordan, Williams, Jack, Chan, Li, Marimuthu, Vidhya, Metherell, Louise
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Adrenal
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266134/ http://dx.doi.org/10.1210/jendso/bvab048.172

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