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Your search keyword '"Lacrimal Apparatus Diseases genetics"' showing total 10 results

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10 results on '"Lacrimal Apparatus Diseases genetics"'

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1. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.

2. Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

3. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

4. Phenotypic heterogeneity in AAAS gene mutation.

5. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.

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

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

8. [From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].

9. Analysis of the AAAS gene in a Japanese patient with triple A syndrome.

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

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