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Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene

✍ Scribed by Sang-Wun Kim; Jongsun Jung; Hyun-Jeong Oh; Jihong Kim; Kwang-Soo Lee; Dong-Hwan Lee; Chan Park; Kuchan Kimm; Soo Kyung Koo; Sung-Chul Jung

Book ID
116347005
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
679 KB
Volume
365
Category
Article
ISSN
0009-8981

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Two previously unidentified mutations at the phenylalanine hydroxylase locus were found during a study of the relationship between genotype and phenotype in phenylketonuria and hyperphenylalaninemia. One mutation eliminates the BamHI site in exon 7 and the other eliminates the HindIII site in exon 1

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Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at