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...

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Bibliographic Details
Main Authors: George, A, Crackower, M, Abdalla, J, Hudson, A, Ebers, G
Format: Journal article
Language:English
Published: 1993