Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigree...

詳細記述

書誌詳細
主要な著者: George, A, Crackower, M, Abdalla, J, Hudson, A, Ebers, G
フォーマット: Journal article
言語:English
出版事項: 1993