The fragile X premutation: into the phenotypic fold.
作者： Randi J Hagerman , Paul J Hagerman
DOI: 10.1016/S0959-437X(02)00299-X
关键词: Genetics 、 Fmr1 gene 、 Mutation 、 Ataxia 、 Premature ovarian failure 、 Phenotype 、 Biology 、 Allele 、 FMR1 、 Fragile x
摘要: Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute phenotype through genetic instability and transmission full mutation (>200 repeats). There is now mounting evidence that premutation themselves clinical involvement, including premature ovarian failure among female carriers a new tremor/ataxia syndrome older male carriers. Recent observations also provide direct dysregulation FMR1 in range, which may explain many observations.
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