Characterization of three new deletions at the 5′ end of the HPRT structural gene
- 1 March 1990
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (2) , 178-183
- https://doi.org/10.1007/bf01799683
Abstract
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.Keywords
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