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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2011-4-4
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pubmed:abstractText |
Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance. The immunologic features of DKC remain under diagnosed and under treated despite the fact that immunodeficiency is a major cause of premature mortality in DKC.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1399-3038
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pubmed:author |
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pubmed:copyrightInfo |
© 2011 John Wiley & Sons A/S.
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pubmed:issnType |
Electronic
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
313-9
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pubmed:meshHeading |
pubmed-meshheading:21284747-Adolescent,
pubmed-meshheading:21284747-Antibodies,
pubmed-meshheading:21284747-Child, Preschool,
pubmed-meshheading:21284747-Dyskeratosis Congenita,
pubmed-meshheading:21284747-Female,
pubmed-meshheading:21284747-Hospitals, Pediatric,
pubmed-meshheading:21284747-Humans,
pubmed-meshheading:21284747-Immunologic Deficiency Syndromes,
pubmed-meshheading:21284747-Infant,
pubmed-meshheading:21284747-Male,
pubmed-meshheading:21284747-Mutation,
pubmed-meshheading:21284747-Philadelphia,
pubmed-meshheading:21284747-T-Lymphocytes,
pubmed-meshheading:21284747-Telomerase,
pubmed-meshheading:21284747-Telomere
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pubmed:year |
2011
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pubmed:articleTitle |
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
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pubmed:affiliation |
Division of Allergy and Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Jyonouchi@email.chop.edu
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pubmed:publicationType |
Journal Article,
Review
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