• Mutation; HGNC; 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
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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
Alan R. Lehmann, Anne Elizabeth Willis, Bernard C. Broughton, Michael R. James, Herdis Steingrimsdottir, Susan A. Harcourt, Colin Francis Arlett, Tomas Robert Lindahl;
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Jay E. Johnson, Kajia Cao, Paul Ryvkin, Li-San Wang, F. Brad Johnson;
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)