• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
  
• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (PubMed=17407155).
  

PubMed=6667451
Milton W. Taylor, Raman M. Kothari, Gina D. Holland, Hector Martinez-Valdez, G. Zeige;
A comparison of purine and pyrimidine pools in Bloom's syndrome and normal cells.
Cancer Biochem. Biophys. 7:19-25(1983)

PubMed=6330733; DOI=10.1073/pnas.81.13.4033; PMCID=PMC345362
Milton W. Taylor, Thomas C. Long, Hector Martinez-Valdez, Joyce Downing, G. Zeige;
Induction of gamma-interferon activity by elevated temperatures in human B-lymphoblastoid cell lines.
Proc. Natl. Acad. Sci. U.S.A. 81:4033-4036(1984)

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Izumi Arita, Akira Tachibana, Hiraku Takebe, Kouichi Tatsumi;
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

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=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)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)