Identification of a new missense mutation in Japanese phenylketonuric patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711510
Reference22 articles.
1. Akoi K, Wada Y (1988) Outcome of the patients detected by newborn screening in Japan.Acta Paediatr 30: 429?434.
2. Bickel H, Bachmann C, Beckers R (1981) Neonatal mass screening for metabolic disorders.Eur J Pediatr 137: 133?139.
3. Blaskovics M, Schaeffler G, Hack S (1974) Phenylalaninemia: differential diagnosis.Arch Dis Child 49: 835?843.
4. DiLella AG, Woo SLC (1987) Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride.Methods Enzymol 152: 447?451.
5. Higuchi R, Stang HD, Browne JK et al (1981) Human ribosomal RNA gene spacer sequences are found interspersed elsewhere in the genome.Gene 15: 177?186.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Rapid Mutation Screening of Phenylketonuria by Polymerase Chain Reaction-Linked Restriction Enzyme Assay and Direct Sequence of the Phenylalanine Hydroxylase Gene: Clinical Application in Northern Japan and Northern China;Genetic Testing;2000-09
2. The Structural Basis of Phenylketonuria;Molecular Genetics and Metabolism;1999-10
3. Molecular characterization of phenylketonuria in Japanese patients;Human Genetics;1998-11-26
4. 6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy;Advances in Genetics;1995
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