학술논문
A family with two female siblings with compound heterozygous FMR1 premutation alleles
Document Type
article
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Source
Clinical Genetics. 85(5)
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Language
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 (