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Immune mediated Disorders in Women with a Fragile X Expansion and FXTAS

Premutation alleles in FMR1 can cause the late-onset neurodegenerative disorder, fragile X-associated tremor ataxia syndrome (FXTAS) and/or the fragile X-associated primary ovarian insufficiency in approximately 20% of heterozygotes. Heterozygotes of the FMR1 premutation have a higher incidence of i...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: Jalnapurkar, Isha, Rafika, Nuva, Tassone, Flora, Hagerman, Randi
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4275322/
https://ncbi.nlm.nih.gov/pubmed/25399540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36748
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