A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family
β Scribed by Sandra Kleiman; Gerard Schwartz; Savio L. C. Woo; Yosef Shiloh
- Book ID
- 102258906
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 301 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1059-7794
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A direct mutational analysis of the phenylalanine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovaki
## Scrivei Phenylketonuria (PKU) and benign hyperphenylalaninemia (HPA) result from different combinations of mutations at the locus for phenylalanine hydroxylase (PAH). While some of these mutations show widespread ethnic distribution, others are unique to specific communities. We report here the