ArticleClinical genetics2014
A family with two female siblings with compound heterozygous FMR1 premutation alleles.
Article in Clinical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.Reproductive biology and endocrinology : RB&E · 2024Article
- Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Cerebellum (London, England) · 2016Article
- Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Intractable & rare diseases research · 2014Review
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Authors and funding
7 authors.
Funding
Abstract
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele (<55 CGG repeats). Although rare, seven cases of females that carry two expanded alleles (compound heterozygous premutation) have been reported. Here, we report on four members of a family including two compound heterozygous premutation sisters with similar CGG allele sizes, affected with different levels of clinical severity.
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