The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
2001
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis 1 . Linkage of chorea-acanthocytosis to chromosome 9q21 has been found 2 . We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
8
References
228
Citations
NaN
KQI