Article

High Prevalence Mutations in ALMS1 in Spanish Alström Patients

2020-07-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold>Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (<italic>ALMS1) </italic>gene, which codifies for a structural protein of the basal body and centrosomes. Symptomatology involves nystagmus, type 2 diabetes mellitus (DM2), obesity, dilated cardiomyopathy (DMC...

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Literature Corpus work: 37c5a874-ceef-5b32-884d-7e9d51bec446
DOI: 10.21203/rs.3.rs-45421/v1

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