Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant D...
Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita
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Publisher
United States: National Academy of Sciences
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Language
English
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Publisher
United States: National Academy of Sciences
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Contents
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to bone marrow failure, but idiopathic pulmonary fibrosis and an increased cancer predisposition also occur. Families with autosomal dominant dyskeratosis congenita display anticipation and have...
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Full title
Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita
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TN_cdi_jstor_primary_4143307
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_4143307
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0508124102
