A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
Thierfelder, L, MacRae, C, Watkins, H, Tomfohrde, J, Williams, M, McKenna, W, ...
We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin,...
White, A, Tomfohrde, J, Stewart, E, Barnes, R, Le Paslier, D, Weissenbach, J, ...
We have previously performed a genetic analysis of multiply affected families to map a locus responsible for Wilson disease (WND) to a 0.3-centimorgan (cM) region within chromosome 13q14.3, between...
Polymorphic microsatellites and Wilson disease (WD)
Stewart, E. A., White, A., Tomfohrde, J., Osborne-Lawrence, S., Prestridge, L., Bonne-Tamir, B., ...
Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the...
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
Thierfelder, L, MacRae, C, Watkins, H, Tomfohrde, J, Williams, M, McKenna, W, ...
We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin,...
White, A, Tomfohrde, J, Stewart, E, Barnes, R, Le Paslier, D, Weissenbach, J, ...
We have previously performed a genetic analysis of multiply affected families to map a locus responsible for Wilson disease (WND) to a 0.3-centimorgan (cM) region within chromosome 13q14.3, between...
Polymorphic microsatellites and Wilson disease (WD)
Stewart, E. A., White, A., Tomfohrde, J., Osborne-Lawrence, S., Prestridge, L., Bonne-Tamir, B., ...
Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the...
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.
Bowcock, A. M., Tomfohrde, J., Weissenbach, J., Bonne-Tamir, B., St George-Hyslop, P., Giagheddu, M., ...
Wilson disease (WND) is an autosomal recessive disorder that is due to an inability of the liver to eliminate copper. Copper buildup in the liver, brain, kidney, and other tissues can result in liver...