Origins of the fragile X syndrome mutation.

doi:10.1136/jmg.30.8.647

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Article

Origins of the fragile X syndrome mutation.

Journal of medical genetics - 1 Aug 1993

Hirst M C, Knight S J, Christodoulou Z, Grewal P K, Fryns J P, Davies K E

Abstract excerpt

The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, ho...

Topics

Alleles
Fragile X Syndrome
Haplotypes
Humans
Male
Mutation
Repetitive Sequences, Nucleic Acid

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