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. 2007 Dec 26;35(22):7557–7565. doi: 10.1093/nar/gkm1064

Table 1.

Premature aging syndromes, associated genetic mutations and affected DNA damage repair pathway

Disease Affected DNA repair pathway Gene(s) mutated
Xeroderma Pigmentosa Nucleotide excision repair XP(A-G)
Cockayne syndrome Nucleotide excision repair CSA & CSB
Trichothiodystrophy Nucleotide excision repair Various XP and CS related
Werner syndrome DSB repair homologous Rec. WRN (a RECQ family member)
Rothmund–Thomson syndrome DSB repair homologous Rec. RECQ4
Bloom DSB repair homologous Rec. BLM (a RECQ family member)
Ataxia Telangiectasia Global DSB repair ATM (a PI3K)