Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: The impact of two linked polymorphisms

Human Molecular Genetics

Volumn 13, Issue 20, 2004, Pages 2369-2376

  Girard, Pierre Marie ^a,b   Kysela, Boris ^a,c   Härer, Christine J ^a   Doherty, Aidan J ^a   Jeggo, Penny A ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b CNRS   (France)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; RECOMBINANT PROTEIN;

ADENYLATION; ANIMAL CELL; ARTICLE; AUTOSOMAL DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DNA POLYMORPHISM; ENZYME ACTIVITY; GENE MUTATION; HOMOZYGOSITY; IMMUNE DEFICIENCY; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL; PROTEIN FUNCTION;

ANIMALS; CELL NUCLEUS; CHILD; CHO CELLS; CRICETINAE; CRICETULUS; CYTOPLASM; DEVELOPMENTAL DISABILITIES; DNA LIGASES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; NUCLEAR LOCALIZATION SIGNALS; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; RADIATION TOLERANCE; TRANSFECTION;

EID: 19544379326     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh274     Document Type: Article

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