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Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Hum Genet. 1998 Sep;103(3):311-8. doi: 10.1007/s004390050822.
Hum Genet. 1998.
PMID: 9799086
Validation of the human T-lymphocyte cloning assay--ring test report from the EU concerted action on HPRT mutation (EUCAHM).
Hou SM, Van Dam FJ, de Zwart F, Warnock C, Mognato M, Turner J, Podlutskaja N, Podlutsky A, Becker R, Barnett Y, Barnett CR, Celotti L, Davies M, Hüttner E, Lambert B, Tates AD.
Hou SM, et al. Among authors: podlutskaja n.
Mutat Res. 1999 Dec 17;431(2):211-21. doi: 10.1016/s0027-5107(99)00164-5.
Mutat Res. 1999.
PMID: 10635988
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