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Article

Epstein–Barr virus‐associated B‐cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

7 Mar 2007

Abstract excerpt

A 14-year-old Japanese girl with a progressing combined immunodeficiency had developed non-Hodgkin's diffuse large B cell lymphoma. Her molecular analysis showed a compound heterozygote of novel mutations in the LIG4 gene, M249V substitution and a five nucleotides deletion from nucleotide position 1,270-1,274. She had also a set of characteristic clinical features of LIG4 syndrome. Mutations in the LIG4 gene,...

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Identifiers

PMID: 17345618
DOI: 10.1002/ajmg.a.31644

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