Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of their Functional Effects

PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataracts) is a recently described autosomal recessive neurodegenerative disease caused by mutations in the α–β–hydrolase domain-containing 12 gene (ABHD12). Only five homozygous ABHD12 mutations have been reported and the pathog...

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Main Authors: Chen, Dong-Hui, Naydenov, Alipi, Blankman, Jacqueline L., Mefford, Heather C., Davis, Marie, Sul, Youngmee, Barloon, A. Samuel, Bonkowski, Emily, Wolff, John, Matsushita, Mark, Smith, Corrine, Cravatt, Benjamin F., Mackie, Ken, Raskind, Wendy H., Stella, Nephi, Bird, Thomas D.
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3855015/
https://ncbi.nlm.nih.gov/pubmed/24027063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22437
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