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A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family

✍ 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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## 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