A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome (Q28302586)

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Katrin Koehler

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Zdravko Perkovic

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Angela Huebner

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Mirko Korsic

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

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language of work or name

English

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publication date

2006

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171-6

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cites work

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Clinical and genetic characterization of families with triple A (Allgrove) syndrome

21 January 2018

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Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

21 January 2018

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Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

21 January 2018

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Mutant WD-repeat protein in triple-A syndrome

21 January 2018

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Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome

21 January 2018

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Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin

21 January 2018

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Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

21 January 2018

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Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

21 January 2018

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The WD repeat: a common architecture for diverse functions

21 January 2018

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New insights into the molecular basis of the triple A syndrome

21 January 2018

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Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche

21 January 2018

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Proteomic analysis of the mammalian nuclear pore complex

21 January 2018

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The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome

21 January 2018

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