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pubmed-article:1353055lifeskim:mentionsumls-concept:C0012872lld:lifeskim
pubmed-article:1353055pubmed:issue5lld:pubmed
pubmed-article:1353055pubmed:dateCreated1992-8-25lld:pubmed
pubmed-article:1353055pubmed:abstractTextThis paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.lld:pubmed
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pubmed-article:1353055pubmed:volume89lld:pubmed
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pubmed-article:1353055pubmed:pagination539-42lld:pubmed
pubmed-article:1353055pubmed:dateRevised2010-11-18lld:pubmed
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pubmed-article:1353055pubmed:year1992lld:pubmed
pubmed-article:1353055pubmed:articleTitleThree DNA markers for hypophosphataemic rickets.lld:pubmed
pubmed-article:1353055pubmed:affiliationDepartment of Medicine, University College and Middlesex Medical School, Middlesex Hospital, London, UK.lld:pubmed
pubmed-article:1353055pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:1353055pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed