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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Bibliografiska uppgifter
Huvudupphovsmän: Gruhn, Bernd, Seidel, Joerg, Zintl, Felix, Varon, Raymonda, Tönnies, Holger, Neitzel, Heidemarie, Bechtold, Astrid, Hoehn, Holger, Schindler, Detlev
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2007
Ämnen:
Case Report
Länkar: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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