Comparative Study
doi: 10.1007/pl00008714.
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
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- PMID: 10323248
- DOI: 10.1007/pl00008714
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Comparative Study
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
Hum Genet.
1999 Mar.
Erratum in
- Hum Genet 1999 Jun;104(6):528
Abstract
Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolated populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders, drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible caveats regarding this method of genetic mapping.
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