Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

Heterozygous mutations in the telomerase components TERT, the reverse transcriptase, and TERC, the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening. Anticipation, whereby the disease severity increases in succeeding generations due to inheritance of shorter te...

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Detalhes bibliográficos
Main Authors: Du, Hong-Yan, Pumbo, Elena, Manley, Peter, Field, Joshua J., Bayliss, Susan J., Wilson, David B., Mason, Philip J., Bessler, Monica
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Clinical Trials and Observations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2214749/
https://ncbi.nlm.nih.gov/pubmed/18042801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-10-120907
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