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Investigation of Chromosome X Inactivation and Clinical Phenotypes in Female Carriers of DKC1 Mutations

Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer susceptibility syndrome caused by germline mutations in telomere biology genes. Germline mutations in DKC1, which encodes the protein dyskerin, cause X-linked recessive DC. Due to skewed X-chromosome inactivation, female DKC1...

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Detalhes bibliográficos
Publicado no:Am J Hematol
Main Authors: Xu, Jialin, Khincha, Payal P., Giri, Neelam, Alter, Blanche P., Savage, Sharon A., Wong, Judy M.Y.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7466628/
https://ncbi.nlm.nih.gov/pubmed/27570172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.24545
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