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...

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Detalles Bibliográficos
Autores principales: Panichareon, Benjaporn, Seedapan, Thanawat, Thongnoppakhun, Wanna, Limwongse, Chanin, Pithukpakorn, Manop, Limjindaporn, Thawornchai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Published online: August, 2015
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

Internet

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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