• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (PubMed=10521302; Coriell=GM16375).
  

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

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=11325959; DOI=10.1074/jbc.M009664200
Gregory T. Langland, Jennifer Kordich, Jenette Creaney, Kathleen Heppner Goss, Kate Lillard-Wetherell, Katarzyna Bebenek, Thomas A. Kunkel, Joanna Groden;
The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair.
J. Biol. Chem. 276:30031-30035(2001)

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)