Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
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Candidate genes of idiopathic pulmonary fibrosis: current evidence and researchUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsThe short and long telomere syndromes: paired paradigms for molecular medicineA novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaLoss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaThe genomics of inherited bone marrow failure: from mechanism to the clinic.Pneumococcal vaccine failure: can it be a primary immunodeficiency?Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.The diagnosis and treatment of dyskeratosis congenita: a review.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomerase mutations in smokers with severe emphysema.Rare variants in RTEL1 are associated with familial interstitial pneumoniaDiagnosis of Fanconi anemia by diepoxybutane analysis.Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.The molecular genetics of the telomere biology disorders.Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case ReportInvestigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care.Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.The genetic basis of idiopathic pulmonary fibrosisReply: telomerase makes connections between pulmonary fibrosis and emphysema.Telomeres revisited: RTEL1 variants in pulmonary fibrosis.What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis.Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.Diagnostic utility of telomere length testing in a hospital-based setting.Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
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P2860
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Telomere phenotypes in females ...... atosis congenita 1 (DKC1) gene
@en
Telomere phenotypes in females ...... n the dyskeratosis congenita 1
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type
label
Telomere phenotypes in females ...... atosis congenita 1 (DKC1) gene
@en
Telomere phenotypes in females ...... n the dyskeratosis congenita 1
@nl
prefLabel
Telomere phenotypes in females ...... atosis congenita 1 (DKC1) gene
@en
Telomere phenotypes in females ...... n the dyskeratosis congenita 1
@nl
P2093
P2860
P356
P1433
P1476
Telomere phenotypes in females ...... atosis congenita 1 (DKC1) gene
@en
P2093
Arleen D Auerbach
Christa L Wagner
Erin M Parry
Jonathan K Alder
Lawrence M Lieblich
Robert Auerbach
Sarah J Wheelan
Srinivasan Yegnasubramanian
P2860
P304
P356
10.1002/HUMU.22397
P577
2013-09-11T00:00:00Z