Phenylketonuria mutation in southern Europeans
โ Scribed by KALAYDJIEVA, L
- Book ID
- 121957822
- Publisher
- The Lancet
- Year
- 1991
- Tongue
- English
- Weight
- 185 KB
- Volume
- 337
- Category
- Article
- ISSN
- 0140-6736
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
DNA amplification with the polymerase chain reaction was employed to identify the phenylketonuria (PKU) mutation in Chinese PKU families. The amplified DNA was hybridized with oligonucleotides corresponding to the two most common mutant alleles, i.e., mutations associated with PKU haplotype 2 and 3
Phenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the molecular genetics of PKU in Europe we identified 29 mutations that may be regarded as prevalent in European populations. Comprehe