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Origins of the fragile X syndrome mutation.

Abstract:

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, however, have failed to identify any cases of a new mutation. Alternatively, it has been suggested that a selective advantage of unaffected heterozygotes may, in part, explain the high incidence of the ...

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Publisher copy:
10.1136/jmg.30.8.647

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Christodoulou, Z More by this author
Grewal, PK More by this author
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Journal:
Journal of medical genetics
Volume:
30
Issue:
8
Pages:
647-650
Publication date:
1993-08-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:aa47d095-072d-49d1-bd9a-54423c794eb2
Source identifiers:
35856
Local pid:
pubs:35856

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