A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

Abstract Background Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated with the development of Alstrom synd...

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Bibliographic Details
Main Authors: Kathryn M. Meurs, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypertrophic cardiomyopathy
ALMS1
Feline
Mitogenic
Sphynx
Online Access:https://doi.org/10.1186/s13023-021-01740-5

Internet

https://doi.org/10.1186/s13023-021-01740-5

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