172 related articles for article (PubMed ID: 19938643)
21. PKU in Minas Gerais State, Brazil: mutation analysis.
Santos LL; Castro-Magalhães M; Fonseca CG; Starling AL; Januário JN; Aguiar MJ; Carvalho MR
Ann Hum Genet; 2008 Nov; 72(Pt 6):774-9. PubMed ID: 18798839
[TBL] [Abstract][Full Text] [Related]
22. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J; Preusse A; Sarnavka V; Fumic K; Mardesic D; Hoffmann GF; Baric I
Hum Mutat; 2003 Apr; 21(4):399. PubMed ID: 12655552
[TBL] [Abstract][Full Text] [Related]
23. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
24. Mutation spectrum of phenylketonuria in Iranian population.
Zare-Karizi Sh; Hosseini-Mazinani SM; Khazaei-Koohpar Z; Seifati SM; Shahsavan-Behboodi B; Akbari MT; Koochmeshgi J
Mol Genet Metab; 2011 Jan; 102(1):29-32. PubMed ID: 20920871
[TBL] [Abstract][Full Text] [Related]
25. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
[TBL] [Abstract][Full Text] [Related]
26. Mutation screening of phenylketonuria in the Far East of Russia.
Sueoka H; Moshinetsky A; Nagao M; Chiba S
J Hum Genet; 1999; 44(6):368-71. PubMed ID: 10570906
[TBL] [Abstract][Full Text] [Related]
27. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
Stojiljkovic M; Jovanovic J; Djordjevic M; Grkovic S; Cvorkov Drazic M; Petrucev B; Tosic N; Karan Djurasevic T; Stojanov L; Pavlovic S
Clin Genet; 2006 Aug; 70(2):151-5. PubMed ID: 16879198
[TBL] [Abstract][Full Text] [Related]
28. Screening for base mutations in the PAH and HPRT loci using the polymerase chain reaction (PCR) in combination with denaturing gradient gel electrophoresis (DGGE).
Børresen AL; Hovig E; Smith-Sørensen B; Vrieling H; Apold J; Brøgger A
Prog Clin Biol Res; 1990; 340A():389-98. PubMed ID: 2388921
[No Abstract] [Full Text] [Related]
29. [Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
Baturina OA; Bondar' AA; Tupikin AE; Zhabin SG; Morozov IV
Tsitol Genet; 2012; 46(4):40-7. PubMed ID: 23074961
[TBL] [Abstract][Full Text] [Related]
30. Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Haefele MJ; White G; McDonald JD
Mol Genet Metab; 2001 Jan; 72(1):27-30. PubMed ID: 11161825
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Identification of mutation of the phenylalanine hydroxylase gene using an automated DNA sequencer].
Smagulova FO; Brenner EV; Kotova LIu; Koren' OL; Nagaĭtsev VM; Zhabin SG; Morozov IV
Genetika; 2004 Feb; 40(2):272-6. PubMed ID: 15065437
[TBL] [Abstract][Full Text] [Related]
33. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
[TBL] [Abstract][Full Text] [Related]
34. Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
Popescu T; Blazkova M; Kozak L; Jebeleanu G; Popescu A
Hum Mutat; 1998; 12(5):314-9. PubMed ID: 9792407
[TBL] [Abstract][Full Text] [Related]
35. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Rivera I; Leandro P; Lichter-Konecki U; Tavares de Almeida I; Lechner MC
J Med Genet; 1998 Apr; 35(4):301-4. PubMed ID: 9598724
[TBL] [Abstract][Full Text] [Related]
38. [Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
Zhang JJ; Sun Y; Sun YJ; Huang ML; Zhang J; Liang XW; Jiang T; Xu ZF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct; 30(5):513-7. PubMed ID: 24078561
[TBL] [Abstract][Full Text] [Related]
39. Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Dahri S; Desviat LR; Pérez B; Leal F; Ugarte M; Chabraoui L
Clin Biochem; 2010 Jan; 43(1-2):76-81. PubMed ID: 19786003
[TBL] [Abstract][Full Text] [Related]
40. [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
Skriabin BV; Koval'chuk LA; Khal'chitskiĭ SE; Gol'tsov AA; Kaboev OK; Plutalov OV; Berlin IuA; Shvarts EI
Bioorg Khim; 1989 Dec; 15(12):1690-2. PubMed ID: 2634967
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]