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. 1993 Jul;30(7):618-9.
doi: 10.1136/jmg.30.7.618.

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28

R Arngrimsson  1 , I Dokal, L Luzzatto, J M Connor
Affiliations

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28

R Arngrimsson et al. J Med Genet. 1993 Jul.

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

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References

    1. N Engl J Med. 1992 Jan 9;326(2):95-100 - PubMed

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