Article
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
Human molecular genetics - 15 Oct 2004
Girard Pierre-Marie, Kysela Boris, Härer Christine J, Doherty Aidan J, Jeggo Penny A
Abstract excerpt
LIG4 syndrome patients have hypomorphic mutations in DNA ligase IV. Although four of the five identified patients display immunodeficiency and developmental delay, one patient was developmentally normal. The developmentally normal patient had the same homozygous mutation (R278H) in DNA ligase IV as one of the more severely affected patients, who additionally had two linked polymorphisms. Here, we examine the...
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