Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1992.tb03647.x/fullpdf
Reference31 articles.
1. CpG dinu-cleotides are mutation hot spots in phenylketonuria;Abadie;Genom-ics,1989
2. Phenylketonuria: distribution of DNA diagnostic pattern in German families;Aulehla-Scholz;Hum Genet,1985
3. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria;Chakraborty;Hum Genet,1987
4. Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU);Daiger;Am J Hum Genet,1989
5. Haplotype distribution and molecular defects at the phenylalanine locus in Italy;Dianzani;Hum Genet,1990
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1. Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia;Journal of Human Genetics;2004-03-10
2. The Structural Basis of Phenylketonuria;Molecular Genetics and Metabolism;1999-10
3. Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations;The American Journal of Human Genetics;1997-12
4. PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population;Journal of Inherited Metabolic Disease;1996-01
5. 6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy;Advances in Genetics;1995
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