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FRAXA premutation associated with premature ovarian failure

✍ Scribed by Vianna-Morgante, Angela M.; Costa, Silvia S.; Pares, Annunziata S.; Verreschi, Ieda T. N.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 239 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960809)64:2<373::aid-ajmg28>3.0.co;2-b

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✦ Synopsis

A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evidence for a nonrandom association between POF and the FRAXA premutation.

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