Article
Identification of three novel missense PKU mutations among Chinese.
Genomics - 1 Jul 1992
Li J, Eisensmith R C, Wang T, Lo W H, Huang S Z, Zeng Y T, Yuan L F, Liu S R, Woo S L
Abstract excerpt
Three novel missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese individuals afflicted with various degrees of phenylketonuria (PKU). A T-to-C transition was observed in exon 5 of the gene, resulting in the substitution of Phe161 by Ser161. Two substitutions, G-to-T and T-to-G, were observed in exon 7, resulting in the substitution of Gly247 by Val247 and Leu255 by...
Topics
- Alleles
- Amino Acid Sequence
- Asian People
- Base Sequence
- China
- Codon
- DNA Mutational Analysis
- Humans
- Phenylalanine Hydroxylase
- Phenylketonurias