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Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
BACKGROUND: DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia...
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Päätekijät: | , , , , , , , , |
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Aineistotyyppi: | Artigo |
Kieli: | Inglês |
Julkaistu: |
BioMed Central
2007
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Aiheet: | |
Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1781429/ https://ncbi.nlm.nih.gov/pubmed/17224058 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-2-5 |
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