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

Abstract:

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 pedigrees with this disorder for mutations in HUMCLC. Abnormal bands were detected in all affected, but no unaffected individuals in three of the families. Direct sequencing revealed a G to A transition that re...

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Publication status:
Published

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Publisher copy:
10.1038/ng0493-305

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Nature genetics More from this journal
Volume:
3
Issue:
4
Pages:
305-310
Publication date:
1993-04-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036

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