Chromosoma. 1992 Apr;101(7):381-7.

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

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Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands.

Abstract

Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. A breakthrough has been made in molecular biological research into the fragile X site. In this review we describe the molecular investigations that have led to the isolation of the FMR-1 gene. The nature of the fragile X mutation as well as the implications of the DNA test for the mutation are discussed.

PMID:: 1618021; [PubMed - indexed for MEDLINE]

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