| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=6220706; DOI=10.1016/0006-291x(83)90354-6
David H. Brown, Barbara I. Brown;
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.
Biochem. Biophys. Res. Commun. 111:636-643(1983) PubMed=6401921; PMCID=PMC1685485
Nicholas G. Beratis, Gundula U. LaBadie, Kurt Hirschhorn;
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Am. J. Hum. Genet. 35:21-33(1983) PubMed=2112341; PMCID=PMC1683757
Frank Martiniuk, Mark Mehler, Stephanie Tzall, Gary Meredith, Rochelle Hirschhorn;
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Am. J. Hum. Genet. 47:73-78(1990) PubMed=1652892; PMCID=PMC1683123
Nan Zhong, Frank Martiniuk, Stephanie Tzall, Rochelle Hirschhorn;
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(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=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
John R.W. Masters, Jim A. Thomson, Bernadette Daly-Burns, Yvonne A. Reid, Wilhelm Gerhard Dirks, Phil Packer, Lorraine H. Toji, Tadao Ohno, Hideyuki Tanabe, Colin Francis Arlett, Lloyd R. Kelland ...Show all 16 authors... , Maureen Harrison, Arvind K. Virmani, Timothy H. Ward, Karen L. Ayres, Paul G. Debenham; Show fewer authors
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001) PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N. Beyer, Ulrich Broeckel, Ruth Epstein-Baak, Paul Hujsak, Ruth Kornreich, Jun Liao, Rachel Lorier, Stuart A. Scott ...Show all 15 authors... , Ching-Ying Huang Smith, Lorraine H. Toji, Amy Turner, Lisa V. Kalman; Show fewer authors
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016) |
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