Prevalent <i>ALMS1</i> Pathogenic Variants in Spanish Alström Patients

Prevalent <i>ALMS1</i> 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 (<i>ALMS1</i>) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomato...

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Bibliographic Details
Main Authors: Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
ciliopathies
Alström syndrome
metabolic disease
novel mutations
founder effect
Online Access:https://www.mdpi.com/2073-4425/12/2/282

Internet

https://www.mdpi.com/2073-4425/12/2/282

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