RFLP discordance in a PKU family due to a deletion in the PAH gene

We have previously reported preliminary data on a PKU family showing a discordant segregation of Pvu II (b) alleles at the PAH locus. A combination of several restriction enzymes and probe C2.6 (Intron 2) as well as STR typing were used to dissect the molecular structure of the PAH gene aroun...

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Bibliographic Details
Main Authors: P Bosco, N Ceratto, F Cali, A A Goltsov, R C Eisensmith, G Novelli, B Dalla Piccola, V Romano
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 1996-10-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/3523
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