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Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
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 en...
Autores principales: | Panichareon, Benjaporn, Seedapan, Thanawat, Thongnoppakhun, Wanna, Limwongse, Chanin, Pithukpakorn, Manop, Limjindaporn, Thawornchai |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560313/ https://www.ncbi.nlm.nih.gov/pubmed/26351433 http://dx.doi.org/10.1159/000439042 |
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