Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

CONTEXT: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease, characterised by isolated glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Inactivating mutations in the ACTH receptor (melanocortin-2-receptor, MC2R) are well described and account for...

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Detalles Bibliográficos
Autores principales: Chan, Li F, Chung, Teng-Teng, Massoud, Ahmed F, Metherell, Louise A, Clark, Adrian J L
Formato: Texto
Lenguaje:English
Publicado: BioScientifica 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754377/
https://www.ncbi.nlm.nih.gov/pubmed/19151134
http://dx.doi.org/10.1530/EJE-08-0636

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754377/
https://www.ncbi.nlm.nih.gov/pubmed/19151134
http://dx.doi.org/10.1530/EJE-08-0636

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