Electronic Resource
Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
| العنوان: | Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64 |
|---|---|
| المؤلفون: | Sinke, R.J. (Richard), Carlton, V.E.H. (Victoria E.), Juijn, J.A. (Jenneke), Delhaas, T. (Tammo), Bull, I.D. (Ian), Berge Henegouwen, G.P. (Gerard) van, Hattum, J. (Jan) van, Keller, K.M. (Klaus), Sinaasappel, M. (Maarten), Bijleveld, C.M.A. (Charles M.), Knol, I.E. (Irma), Amstel, H.K.P. van, Pearson, P.L., Berger, R. (Ruud), Freimer, N.B. (Nelson), Houwen, R.H.J. (Roderick) |
| بيانات النشر: | 1997-09-25 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. The gene was previously assigned to chromosome 18q21, using a shared segment analysis in three families from the Netherlands. In the present study we report the linkage analysis of an expanded sample of 14 BRIC families, using 15 microsatellite markers from the 18q21 region. Obligate recombinants in two families place the gene in a 7-cM interval, between markers D18S69 and D18S64. All intervening markers had significant LOD scores in two-point linkage analysis. More over, we identified one family in which the BRIC gene seems to be unlinked to the 18q21 region, or that represents incomplete penetrance of the BRIC genotype. |
| مصطلحات الفهرس: | info:eu-repo/semantics/article |
| DOI: | 10.1007.s004390050520 |
| URL: | |
| الاتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | application/pdf Human Genetics vol. 100 no. 3-4, pp. 382-387 English |
| Other Numbers: | QGQ oai:repub.eur.nl:60333 doi:10.1007/s004390050520 urn:hdl:1765/60333 929956922 |
| المصدر المساهم: | ERASMUS UNIVERSITEIT ROTTERDAM From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.ocn929956922 |
| قاعدة البيانات: | OAIster |
| DOI: | 10.1007.s004390050520 |
|---|