Fine mapping of the dyskeratosis congenita locus in Xq28.
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ABSTRACT:
SUBMITTER: Knight SW
PROVIDER: S-EPMC1050808 | biostudies-other | 1996 Dec
REPOSITORIES: biostudies-other
Publications
Fine mapping of the dyskeratosis congenita locus in Xq28.
Knight S W SW Vulliamy T T Forni G L GL Oscier D D Mason P J PJ Dokal I I
Journal of medical genetics 19961201 12
Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We have now extended our earlier studies by investigating five families with additional Xq28 polymorphic m ...[more]
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