PMID: 9004129Dec 1, 1996Paper

Fine mapping of the dyskeratosis congenita locus in Xq28

Journal of Medical Genetics
S W KnightInderjeet Dokal

Abstract

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 markers; analysis of recombination events in these families has located the DC1 locus between GABRA3 and DXS1108, an interval of approximately 4 Mb.

References

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Citations

Oct 15, 2003·Blood Reviews·Inderjeet Dokal, Tom Vulliamy
Sep 30, 1998·British Journal of Haematology·S CoulthardI Dokal
Jan 14, 1999·British Journal of Haematology·S KnightI Dokal
Oct 29, 2000·British Journal of Haematology·I Dokal
May 2, 2009·Annual Review of Genomics and Human Genetics·Mary Armanios
Dec 7, 2007·Mechanisms of Ageing and Development·Amanda J Walne, Inderjeet Dokal
May 6, 2009·Pediatric Blood & Cancer·Sharon A SavageBlanche P Alter
Aug 1, 1997·American Journal of Human Genetics·A M FerrarisG F Gaetani
Sep 6, 2005·Oral Oncology·T P B HandleyG R Ogden
Sep 6, 2000·Journal of the European Academy of Dermatology and Venereology : JEADV·S MorettiM L Battini
May 20, 1998·Nature Genetics·L Luzzatto, A Karadimitris
Oct 19, 1999·Journal of Pediatric Hematology/oncology·I Dokal
May 18, 2018·F1000Research·Sharon A Savage
Sep 3, 2020·Stem Cells·Neha Nagpal, Suneet Agarwal

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