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. 1992 Mar 15;89(6):2135-9.
doi: 10.1073/pnas.89.6.2135.

Isolation of a candidate gene for choroideremia

D E Merry  1 , P A Jänne, J E Landers, R A Lewis, R L Nussbaum
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Isolation of a candidate gene for choroideremia

D E Merry et al. Proc Natl Acad Sci U S A. .

Abstract

Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.

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References

    1. Biochemistry. 1979 Nov 27;18(24):5294-9 - PubMed
    1. Hum Genet. 1987 Nov;77(3):233-5 - PubMed
    1. Cell. 1990 Jul 13;62(1):193-201 - PubMed
    1. Mol Cell Biol. 1990 Aug;10(8):4116-22 - PubMed
    1. Nature. 1990 Jan 25;343(6256):364-6 - PubMed

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