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FRAXE and mental retardation.

Abstract:

Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and a copy number increased from one generation to the next. In these respects the behaviour of FRAXE paralleled tha...

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Publisher copy:
10.1136/jmg.32.3.162

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Journal:
Journal of medical genetics More from this journal
Volume:
32
Issue:
3
Pages:
162-169
Publication date:
1995-03-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593

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