Abstract
ALMS1 encodes a protein involved in ciliary function and/or ciliogenesis and is located at the ciliary basal body [1, 2]. Mutations are responsible for a progressive cone-rod dystrophy associated with systemic features—Alström syndrome (AS).
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Zahid, S. et al. (2018). ALMS1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_3
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DOI: https://doi.org/10.1007/978-3-319-10867-4_3
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