title: Characterization of three new deletions at the 5' end of the HPRT structural gene.
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.
authors.affiliation: Institute of Medical Genetics, German Democratic Republic.
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D015342:DNA Probes; D005091:Exons / Q000235:genetics; D005796:Genes; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D008297:Male
chemical_list: D015342:DNA Probes; D007041:Hypoxanthine Phosphoribosyltransferase