Phenylketonuria mutation in southern Europeans
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2;DiLella;Nature,1987
2. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria;DiLella;Nature,1986
3. Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations;Kalaydjieva;J Med Genet,1990
4. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy;Dianzani;Hum Genet,1990
5. Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families;Stuhrmann;Clin Genet,1989
Cited by 17 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. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.;Journal of Medical Genetics;1998-04-01
2. The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples;Human Genetics;1997-08-04
3. Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study;Human Genetics;1997-03-17
4. Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population;Human Mutation;1997
5. A novel A–>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.;Journal of Lipid Research;1996-01
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