common variant in combination with a nonsense mutation in a member of the thioredoxin family causes...
common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
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Publisher
United States: National Academy of Sciences
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Language
English
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Publisher
United States: National Academy of Sciences
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Contents
Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none of the 18 members of this family has been involved in human pathology. Here we identified TXNDC3, which encodes a thioredoxin-nucleoside d...
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Full title
common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1805560
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1805560
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0611405104
