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Article

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys.

American journal of medical genetics - 28 May 1999

Haddad L A, Aguiar M J, Costa S S, Mingroni-Netto R C, Vianna-Morgante A M, Pena S D

Abstract excerpt

We used a non-isotopic polymerase chain reaction (PCR) technique for fragile X syndrome diagnosis to screen 256 mentally retarded boys who were selected randomly from special schools. Patients identified as pre- or full-mutation carriers were further investigated by Southern blot analysis with the StB12.3 probe. The PCR-based test identified five boys with the expanded allele and 17 other patients as carriers of...

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PMID: 10331590
DOI: 10.1002/(sici)1096-8628(19990528)84:3<198::aid-ajmg5>3.0.co;2-w

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