These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
120 related articles for article (PubMed ID: 8889590)
1. Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. Guldberg P; Mallmann R; Henriksen KF; Güttler F Hum Mutat; 1996; 8(3):276-9. PubMed ID: 8889590 [No Abstract] [Full Text] [Related]
2. A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family. Kleiman S; Schwartz G; Woo SL; Shiloh Y Hum Mutat; 1992; 1(4):344-6. PubMed ID: 1301943 [No Abstract] [Full Text] [Related]
3. Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts. Okano Y; Hase Y; Shintaku H; Araki K; Furuyama J; Oura T; Isshiki G Hum Mol Genet; 1994 Apr; 3(4):659. PubMed ID: 7915167 [No Abstract] [Full Text] [Related]
4. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. Baranovskaya S; Shevtsov S; Maksimova S; Kuzmin A; Schwartz E J Inherit Metab Dis; 1996; 19(5):705. PubMed ID: 8892033 [No Abstract] [Full Text] [Related]
5. Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria. Kleiman S; Li J; Schwartz G; Eisensmith RC; Woo SL; Shiloh Y Hum Mol Genet; 1993 May; 2(5):605-6. PubMed ID: 8518802 [No Abstract] [Full Text] [Related]
7. Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RG J Med Genet; 1993 Mar; 30(3):228-31. PubMed ID: 8097261 [TBL] [Abstract][Full Text] [Related]
8. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. Jennings IG; Cotton RG; Kobe B Eur J Hum Genet; 2000 Sep; 8(9):683-96. PubMed ID: 10980574 [TBL] [Abstract][Full Text] [Related]
9. A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population. Zygulska M; Eigel A; Pietrzyk JJ; Miny P; Horst J Hum Mutat; 1993; 2(1):74-6. PubMed ID: 8097423 [No Abstract] [Full Text] [Related]
10. Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. Michiels L; François B; Raus J; Vandevyver C Hum Mutat; 1998; Suppl 1():S123-4. PubMed ID: 9452062 [No Abstract] [Full Text] [Related]
11. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Zhang Z; Gao JJ; Feng Y; Zhu LL; Yan H; Shi XF; Chang AM; Shi Y; Wang P Scand J Clin Lab Invest; 2018 May; 78(3):211-218. PubMed ID: 29390883 [TBL] [Abstract][Full Text] [Related]
12. Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. Bénit P; Rey F; Melle D; Munnich A; Rey J Hum Mutat; 1994; 4(3):229-31. PubMed ID: 7833954 [No Abstract] [Full Text] [Related]
13. Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. Guldberg P; Levy HL; Henriksen KF; Guttler F J Med Genet; 1996 Feb; 33(2):161-4. PubMed ID: 8929956 [TBL] [Abstract][Full Text] [Related]
14. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria. Zygulska M; Eigel A; Pietrzyk JJ; Horst J Hum Mutat; 1993; 2(3):238-9. PubMed ID: 8364593 [No Abstract] [Full Text] [Related]
15. Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria. Ramus SJ; Forrest SM; Cotton RG Hum Mutat; 1992; 1(2):154-8. PubMed ID: 1301202 [TBL] [Abstract][Full Text] [Related]
16. Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. Zekanowski C; Cabalska B; Borsuk P; Bal J Hum Mutat; 1997; 10(3):258-9. PubMed ID: 9298832 [No Abstract] [Full Text] [Related]
17. Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification. Dvoráková D; Fajkusová L Hum Mol Genet; 1993 Mar; 2(3):323. PubMed ID: 8098979 [No Abstract] [Full Text] [Related]
18. [Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province]. Li H; Li Y; Zhang L Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):361-364. PubMed ID: 28604955 [TBL] [Abstract][Full Text] [Related]
19. A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. Jaruzelska J; Melle D; Matuszak R; Borski K; Munnich A Hum Mol Genet; 1992 Dec; 1(9):763-4. PubMed ID: 1363837 [No Abstract] [Full Text] [Related]
20. Novel mutation identified in the PAH gene. Charikova EV Hum Hered; 1996; 46(1):36-40. PubMed ID: 8825461 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]