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NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

CONTEXT: Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years, mutations resulting in aberrant pseudoexon inclusion have been increasingly recognized to cause disease. OBJECTIVES: To find the genetic cause of familial glucocorticoid deficiency (FGD) in two s...

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Detalles Bibliográficos
Autores principales:	Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2015
Materias:	JCEM Online: Advances in Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318891/ https://www.ncbi.nlm.nih.gov/pubmed/25459914 http://dx.doi.org/10.1210/jc.2014-3641

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