Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560313 | PMC |
| http://dx.doi.org/10.1159/000439042 | DOI Listing |
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