Summary
In a panel of seven unrelated HPRT-deficient patients three partial deletions of the 5′ end of the HPRT structural gene were identified by Southern blot analysis. The deletions could be defined as the loss of exons 1–3, exons 2–3 and exon 3 respectively. In two of the deletion mutations aberrant restriction fragments occurred.
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Wehnert, M., Herrmann, F.H. Characterization of three new deletions at the 5′ end of the HPRT structural gene. J Inherit Metab Dis 13, 178–183 (1990). https://doi.org/10.1007/BF01799683
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DOI: https://doi.org/10.1007/BF01799683