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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| 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
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3523 |
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