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  • Title: Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
    Author: Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ.
    Journal: Genomics; 1992 Jul; 13(3):892-3. PubMed ID: 1639422.
    Abstract:
    The majority of patients with steroid sulfatase deficiency have a deletion of the entire STS gene located on the distal short arm of the human X chromosome; however, two patients with partial gene deletions have been identified. We now report the sequences at the breakpoints of a deletion of the 3' end of the STS gene. The deletion starts within intron 7 of the gene and extends over 150 kb downstream toward the centromere. Analysis of sequences flanking the deletion breakpoints revealed 3 bp of homology. The 3' flanking sequence provides a new probe for isolation of YAC clones and for studying patients with deletions in this region of the X chromosome.
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