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Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases
Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene wa...
Autores principales: | LI, WENJING, GONG, CHUNXIU, QI, ZHAN, WU, DI, CAO, BINGYAN |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578041/ https://www.ncbi.nlm.nih.gov/pubmed/26622478 http://dx.doi.org/10.3892/etm.2015.2677 |
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