HUGO ID Detailed Result 1058


HUGO ID 1058
Symbol BLM
Name Bloom syndrome
#Occurrence 6
#Paper 1

 


PMID Match String Actual String Score Flanking text Edited by Edit
17174478BLMBLM1.6genome also contains four other RecQ helicase family members RecQ1 BLM RecQ4L and RecQ5 
17174478BLMBLM1.6Mutations in BLM and RecQ4L cause Bloom syndrome and Rothmund-Thomson syndrome respectively ( 
17174478BLMBLM1.6debate ( Sharma et al. 2006 but the human homolog BLM has been observed to form hexameric and/or and or tetrameric 
17174478BLMBLM1.6and are sufficient to cause Bloom syndrome when mutated in BLM ( Ellis et al. 1995 
17174478bloom syndromebloom syndrome1.0mutations in blm and recq4l cause bloom syndrome and rothmund thomson syndrome respectively harrigan et al. 2003 .  
17174478bloom syndromebloom syndrome1.0the cysteine side chains are conserved in the recq family and mutations in these residues disrupt recq helicase function and are sufficient to cause bloom syndrome when mutated in blm ellis et al. 1995 .