Tags

Type your tag names separated by a space and hit enter

Fine mapping of the dyskeratosis congenita locus in Xq28.
J Med Genet. 1996 Dec; 33(12):993-5.JM

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.

Authors+Show Affiliations

Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9004129

Citation

Knight, S W., et al. "Fine Mapping of the Dyskeratosis Congenita Locus in Xq28." Journal of Medical Genetics, vol. 33, no. 12, 1996, pp. 993-5.
Knight SW, Vulliamy T, Forni GL, et al. Fine mapping of the dyskeratosis congenita locus in Xq28. J Med Genet. 1996;33(12):993-5.
Knight, S. W., Vulliamy, T., Forni, G. L., Oscier, D., Mason, P. J., & Dokal, I. (1996). Fine mapping of the dyskeratosis congenita locus in Xq28. Journal of Medical Genetics, 33(12), 993-5.
Knight SW, et al. Fine Mapping of the Dyskeratosis Congenita Locus in Xq28. J Med Genet. 1996;33(12):993-5. PubMed PMID: 9004129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fine mapping of the dyskeratosis congenita locus in Xq28. AU - Knight,S W, AU - Vulliamy,T, AU - Forni,G L, AU - Oscier,D, AU - Mason,P J, AU - Dokal,I, PY - 1996/12/1/pubmed PY - 1996/12/1/medline PY - 1996/12/1/entrez SP - 993 EP - 5 JF - Journal of medical genetics JO - J Med Genet VL - 33 IS - 12 N2 - 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. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/9004129/Fine_mapping_of_the_dyskeratosis_congenita_locus_in_Xq28_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=9004129 DB - PRIME DP - Unbound Medicine ER -