• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02548).
  
• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln752Ter (c.2328C>T); Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02548).
  

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)

PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

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=3030788; DOI=10.1016/0014-4827(87)90214-X
Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H., Moses R.E.
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

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=17407155; DOI=10.1002/humu.20501
German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)