• Mutation; 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
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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
Arita I., Tachibana A., Takebe H., Tatsumi K.
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

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Kurihara T., Teraoka H., Inoue M., Takebe H., Tatsumi K.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
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
Mendez-Bermudez A., Hidalgo-Bravo A., Cotton V.E., Gravani A., Jeyapalan J.N., Royle N.J.
The roles of WRN and BLM RecQ helicases in the alternative lengthening of telomeres.
Nucleic Acids Res. 40:10809-10820(2012)