LAUSR

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

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1 Published in 2021 at "Genes"

DOI: 10.3390/genes12020282

Abstract: 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… read more here.

Keywords: pathogenic variants; alms1 pathogenic; analysis; prevalent alms1 ... See more keywords