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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Jul;30(7):618–619. doi: 10.1136/jmg.30.7.618

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

R Arngrimsson 1, I Dokal 1, L Luzzatto 1, J M Connor 1
PMCID: PMC1016470  PMID: 8105085

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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