Mutation R120G in αB-crystallin, which is linked to a desmin-related myopathy, results in an irregul...
Mutation R120G in αB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function
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National Acad Sciences
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Language
English
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National Acad Sciences
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αB-crystallin, a member of the small heat shock protein family, possesses chaperone-like function. Recently, it has been shown that a missense mutation in αB-crystallin, R120G, is genetically linked to a desmin-related myopathy as well as to cataracts [Vicart, P., Caron, A., Guicheney, P., Li, A., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F.,...
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Mutation R120G in αB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_26848
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_26848
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.96.11.6137
