Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nysta...

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發表在:Genes (Basel)
Main Authors: Bea-Mascato, Brais, Solarat, Carlos, Perea-Romero, Irene, Jaijo, Teresa, Blanco-Kelly, Fiona, Millán, José M., Ayuso, Carmen, Valverde, Diana
格式: Artigo
語言:Inglês
出版: MDPI 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7920446/
https://ncbi.nlm.nih.gov/pubmed/33669459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12020282
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