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An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

Abstract:

The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density genomewide screen for the HMPS gene was therefore performed on SM96, using stringent criteria for assignment of affection status to minimize phenocopy rates. Significant evidenc...

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Publication status:
Published

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Publisher copy:
10.1086/375144

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Journal:
American journal of human genetics
Volume:
72
Issue:
5
Pages:
1261-1267
Publication date:
2003-05-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:93624803-5e51-4cb8-b07c-75490b0e9a72
Source identifiers:
72211
Local pid:
pubs:72211

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