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Case Reports
. 1989 Dec;84(1):22-6.
doi: 10.1007/BF00210665.

Physical fine-mapping of a deletion spanning the Norrie gene

P J Diergaarde  1 , B Wieringa, E M Bleeker-Wagemakers, K B Sims, X O Breakefield, H H Ropers
Affiliations
Case Reports

Physical fine-mapping of a deletion spanning the Norrie gene

P J Diergaarde et al. Hum Genet. 1989 Dec.

Abstract

Norrie disease (ND), atrophia bulborum hereditaria, is caused by a gene defect on the proximal short arm of the X-chromosome. As shown by us and others, microdeletions spanning the DXS7 locus are not uncommon in this disorder, and there is recent evidence that, at least in some of the Norrie deletion patients, the monoamine oxidase (MAO) A and B genes are deleted as well. Molecular hybridization experiments with 19 cloned DNA fragments have enabled us to construct a preliminary long-range restriction map around DXS77, DXS7, MAO-A and MAO-B, and to localize the distal end point of an ND deletion between DXS77 and DXS7.

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References

    1. Nucleic Acids Res. 1986 Nov 11;14(21):8693 - PubMed
    1. Hum Genet. 1985;71(3):211-4 - PubMed
    1. J Med Genet. 1988 Feb;25(2):73-8 - PubMed
    1. Am J Hum Genet. 1984 Mar;36(2):265-76 - PubMed
    1. Nucleic Acids Res. 1986 Feb 25;14(4):1921 - PubMed

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