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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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| Pubblicato in: | Am J Hematol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2016
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| Soggetti: | |
| Accesso online: | 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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