• Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM03402).
  

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=3180052
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322
Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B.
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.
Nucleic Acids Res. 38:1114-1122(2010)