• Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM03403).
  

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=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)

PubMed=1900268; DOI=10.1111/j.1349-7006.1991.tb01745.x; PMCID=PMC5918217
Takayuki Kurihara, Hirobumi Teraoka, Masao Inoue, Hiraku Takebe, Kouichi Tatsumi;
Two types of DNA ligase I activity in lymphoblastoid cells from patients with Bloom's syndrome.
Jpn. J. Cancer Res. 82:51-57(1991)

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=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)

PubMed=22989712; DOI=10.1093/nar/gks862; PMCID=PMC3510502
Aaron Mendez-Bermudez, Alberto Hidalgo-Bravo, Victoria E. Cotton, Athanasia Gravani, Jennie N. Jeyapalan, Nicola Jane Royle;
The roles of WRN and BLM RecQ helicases in the alternative lengthening of telomeres.
Nucleic Acids Res. 40:10809-10820(2012)