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Selected References
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- Aoki K., Wada Y. Outcome of the patients detected by newborn screening in Japan. Acta Paediatr Jpn. 1988 Aug;30(4):429–434. doi: 10.1111/j.1442-200x.1988.tb02533.x. [DOI] [PubMed] [Google Scholar]
- Daiger S. P., Lidsky A. S., Chakraborty R., Koch R., Güttler F., Woo S. L. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet. 1986 Feb 1;1(8475):229–232. doi: 10.1016/s0140-6736(86)90771-3. [DOI] [PubMed] [Google Scholar]
- DiLella A. G., Kwok S. C., Ledley F. D., Marvit J., Woo S. L. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry. 1986 Feb 25;25(4):743–749. doi: 10.1021/bi00352a001. [DOI] [PubMed] [Google Scholar]
- Dworniczak B., Wedemeyer N., Eigel A., Horst J. PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res. 1991 Apr 25;19(8):1958–1958. [PMC free article] [PubMed] [Google Scholar]
- Eisensmith R. C., Woo S. L. Phenylketonuria and the phenylalanine hydroxylase gene. Mol Biol Med. 1991 Feb;8(1):3–18. [PubMed] [Google Scholar]
- Goltsov A. A., Eisensmith R. C., Konecki D. S., Lichter-Konecki U., Woo S. L. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet. 1992 Sep;51(3):627–636. [PMC free article] [PubMed] [Google Scholar]
- John S. W., Rozen R., Scriver C. R., Laframboise R., Laberge C. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet. 1990 May;46(5):970–974. [PMC free article] [PubMed] [Google Scholar]
- Konecki D. S., Lichter-Konecki U. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet. 1991 Aug;87(4):377–388. doi: 10.1007/BF00197152. [DOI] [PubMed] [Google Scholar]
- Kwok S. C., Ledley F. D., DiLella A. G., Robson K. J., Woo S. L. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985 Jan 29;24(3):556–561. doi: 10.1021/bi00324a002. [DOI] [PubMed] [Google Scholar]
- Lidksy A. S., Robson K. J., Thirumalachary C., Barker P. E., Ruddle F. H., Woo S. L. The PKU locus in man is on chromosome 12. Am J Hum Genet. 1984 May;36(3):527–533. [PMC free article] [PubMed] [Google Scholar]
- Lidsky A. S., Güttler F., Woo S. L. Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet. 1985 Mar 9;1(8428):549–551. doi: 10.1016/s0140-6736(85)91208-5. [DOI] [PubMed] [Google Scholar]
- Lidsky A. S., Ledley F. D., DiLella A. G., Kwok S. C., Daiger S. P., Robson K. J., Woo S. L. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet. 1985 Jul;37(4):619–634. [PMC free article] [PubMed] [Google Scholar]
- Wedemeyer N., Dworniczak B., Horst J. PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res. 1991 Apr 25;19(8):1959–1959. doi: 10.1093/nar/19.8.1959. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Woo S. L., Lidsky A. S., Güttler F., Chandra T., Robson K. J. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature. 1983 Nov 10;306(5939):151–155. doi: 10.1038/306151a0. [DOI] [PubMed] [Google Scholar]