PMC:1584416 / 4506-5425 JSONTXT

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{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1584416","sourcedb":"PMC","sourceid":"1584416","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1584416","text":"Many XPD mutations are associated with an exclusive disease phenotype (e.g., XPDR722W with TTD and XPDR683W with XP) and are thus viewed as causative of the corresponding syndromes. Alleles not associated exclusively with one disorder are considered “likely null” alleles [19,20]. Some of these alleles fail to support viability in a haploid Schizosaccharomyces pombe yeast strain with a null mutation in the XPD homologue rad15 and are thus considered devoid of significant biological activity [19]. This classification of alleles as either causative or null currently defines what we refer to as a “monoallelic” paradigm of XPD disease. 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