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Title
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The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32
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Author
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Abstract
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| Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. The symptoms are generally refractory to treatment and persist throughout life. Five kindreds with multiple cases of primary erythermalgia were identified, and the largest was subjected to a genomewide search. We detected strong evidence for linkage of the primary erythermalgia locus to markers from chromosome 2q. The highest LOD score (Z) was obtained with D2S2330 (Z(max) = 6.51). Analysis of recombination events identified D2S2370 and D2S1776 as flanking markers, on chromosome 2q31-32. This defines a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on chromosome 2q31-32, supporting our linkage results. Identification of the primary erythermalgia gene will allow a better clinical classification of this pleomorphic group of disorders. |
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Language
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English
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Source (journal)
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The American journal of human genetics / American Society of Human Genetics [Bethesda, Md] - New York, N.Y., 1949, currens
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Publication
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New York, N.Y.
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2001
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ISSN
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0002-9297
[print]
1537-6605
[online]
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DOI
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10.1086/320107
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Volume/pages
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68
:5
(2001)
, p. 1277-1282
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ISI
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000168171200021
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Full text (Publisher's DOI)
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Full text (open access)
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