دورية أكاديمية
Fine-resolution mapping by haplotype evaluation:the examples of PFIC1 and BRIC
| العنوان: | Fine-resolution mapping by haplotype evaluation:the examples of PFIC1 and BRIC |
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| المؤلفون: | Bull, L N, Juijn, J A, Liao, M, van Eijk, M J, Sinke, R J, Stricker, N L, DeYoung, J A, Carlton, V E, Baharloo, S, Klomp, L W, Abukawa, D, Barton, D E, Bass, N M, Bourke, B, Drumm, B, Jankowska, I, Lovisetto, P, McQuaid, S, Pawlowska, J, Tazawa, Y, Villa, E, Tygstrup, N, Berger, R, Knisely, A S, Freimer, N B |
| المصدر: | Bull , L N , Juijn , J A , Liao , M , van Eijk , M J , Sinke , R J , Stricker , N L , DeYoung , J A , Carlton , V E , Baharloo , S , Klomp , L W , Abukawa , D , Barton , D E , Bass , N M , Bourke , B , Drumm , B , Jankowska , I , Lovisetto , P , McQuaid , S , Pawlowska , J , Tazawa , Y , Villa , E , Tygstrup , N , .... |
| سنة النشر: | 1999 |
| المجموعة: | University of Groningen research database |
| مصطلحات موضوعية: | Cholestasis, Intrahepatic, Chromosome Mapping, Family Health, Genetic Markers, Genotype, Haplotypes, Humans |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://research.rug.nl/en/publications/b0d154e4-9611-4c1f-91d4-991b473e96b8Test |
| DOI: | 10.1007/PL00008714 |
| الإتاحة: | https://doi.org/10.1007/PL00008714Test https://hdl.handle.net/11370/b0d154e4-9611-4c1f-91d4-991b473e96b8Test https://research.rug.nl/en/publications/b0d154e4-9611-4c1f-91d4-991b473e96b8Test |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.9D3D8E15 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/PL00008714 |
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