Haplotype distribution and mutations at the PAH locus in Croatia-Reference-Cited by-同舟云学术

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Haplotype distribution and mutations at the PAH locus in Croatia

Published:1992-09 Issue:1-2 Volume:90 Page:155-157
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Barić Ivo,Mardešić Duško,Gjurić Gorjana,Samavka Vladimir,Göbel-Schreiner Barbara,Lichter-Konecki Uta,Konecki David S.,Trefz Friedrich K.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00210763.pdf

Reference28 articles.

1. Abadie V, Lyonnet S, Maurin N, Bertheion M, Caillaud C, Giraud F, Mattei JF, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936–939

2. Blaskovic M, Schaeffler G, Hack S (1974) Phenylalaninemia: differential diagnosis. Arch Dis Child 49:835–843

3. Dasovich M, Konecki DS, Lichter-Konecki U, Eisensmith RC, Guttler F, Naughton E, Mullins C, Giovannini M, Riva E, Woo SLC (1991) Molecular characterization of PKU allele prevalent in southern Europe and Ireland. Somat Cell Mol Genet 17:303–309

4. DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SLC (1986) Tight linkage between a splicing site mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799–803

5. DiLella AG, Marvit J, Brayton K, Woo SLC (1987) An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327:333–336

Cited by 10 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. Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries;Orphanet Journal of Rare Diseases;2015-05-30

2. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency;Molecular Genetics and Metabolism;2009-07

3. Phenylketonuria mutations in Europe;Human Mutation;2003-03-19

4. The molecular basis of phenylalanine hydroxylase deficiency in Croatia;Human Mutation;2003-03-19

5. Molecular genetics of phenylketonuria in inhabitants of Novosibirsk region;Journal of Evolutionary Biochemistry and Physiology;2002

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