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Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome

Coats plus (CP) syndrome is an inherited autosomal recessive condition that results from mutations in the conserved telomere maintenance component 1 gene (CTC1). The CTC1 protein functions as a part of the CST protein complex, a protein heterotrimer consisting of CTC1–STN1–TEN1 which promotes telome...

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Detalles Bibliográficos
Autores principales:	Oudrhiri, Noufissa, M’kacher, Radhia, Chaker, Diana, Colicchio, Bruno, Borie, Claire, Jeandidier, Eric, Dieterlen, Alain, Griscelli, Frank, Bennaceur-Griscelli, Annelise, Turhan, Ali G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407572/ https://www.ncbi.nlm.nih.gov/pubmed/36011306 http://dx.doi.org/10.3390/genes13081395

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