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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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Опубликовано в: : | J Clin Endocrinol Metab |
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Главные авторы: | , , , , , , , , |
Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
Endocrine Society
2015
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Предметы: | |
Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4318891/ https://ncbi.nlm.nih.gov/pubmed/25459914 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-3641 |
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