TY - JOUR
T1 - Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy
AU - Mansergh, Fiona C.
AU - Kenna, Paul F.
AU - Rudolph, Günther
AU - Meitinger, Thomas
AU - Farrar, G. Jane
AU - Kumar-Singh, Rajendra
AU - Scorer, Janice
AU - Hally, Anna M.
AU - Mynett-Johnson, Lesley
AU - Humphries, Marian M.
AU - Kiang, Sophie
AU - Humphries, Peter
PY - 1995/11
Y1 - 1995/11
N2 - Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.
AB - Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.
UR - http://www.scopus.com/inward/record.url?scp=0028804052&partnerID=8YFLogxK
M3 - Article
C2 - 8592326
AN - SCOPUS:0028804052
SN - 0022-2593
VL - 32
SP - 855
EP - 858
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 11
ER -