• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (PubMed=7585968; PubMed=10521302; PubMed=17407155; Coriell=GM08505).
  

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)

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=7585968; DOI=10.1016/0092-8674(95)90105-1
Nathan A. Ellis, Joanna Groden, Tian-Zhang Ye, Joel E. Straughen, David J. Lennon, Susan Ciocci, Maria Proytcheva, James Lafayette German 3rd;
The Bloom's syndrome gene product is homologous to RecQ helicases.
Cell 83:655-666(1995)

PubMed=10521302; DOI=10.1086/302616; PMCID=PMC1288289
Nathan A. Ellis, Maria Proytcheva, Maureen M. Sanz, Tian-Zhang Ye, James Lafayette German 3rd;
Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
Am. J. Hum. Genet. 65:1368-1374(1999)

PubMed=17407155; DOI=10.1002/humu.20501
James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis;
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)