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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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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | 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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