期刊
CLINICAL GENETICS
卷 60, 期 6, 页码 399-408出版社
BLACKWELL MUNKSGAARD
DOI: 10.1034/j.1399-0004.2001.600601.x
关键词
animal model; FMR1 gene; fragile X syndrome; gene reactivation; repeat expansion; trinucleotide repeat
资金
- NICHD NIH HHS [5 R01 HD38038] Funding Source: Medline
The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch of CGG repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no protein is produced resulting in the fragile X phenotype. Ten years after the discovery of the gene, much has been learned about the function of the fragile X protein. Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known.
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