149 related articles for article (PubMed ID: 22161097)
1. [The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].
Ji CY; Sun LL; Cao LH; Hu Y; Huang H; Wang SS; Luo Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):649-53. PubMed ID: 22161097
[TBL] [Abstract][Full Text] [Related]
2. [Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
Zhou YA; Gao WH; Yang JP; Zhang QB; Zhang GX; Liu JP; Ma YX; Zhang XG; Yu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):683-5. PubMed ID: 23225049
[TBL] [Abstract][Full Text] [Related]
3. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
Desviat LR; Pérez B; Ugarte M
Clin Chim Acta; 2006 Nov; 373(1-2):164-7. PubMed ID: 16875683
[TBL] [Abstract][Full Text] [Related]
4. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
Zhang J; Meng J; Zhai X; Fang G; Gao J; Shi M; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
[TBL] [Abstract][Full Text] [Related]
5. [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
Yan YS; Wang Z; Hao SJ; Meng Y; Zheng L; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):419-22. PubMed ID: 20017307
[TBL] [Abstract][Full Text] [Related]
6. Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E; Ficek A; Radvanszky J; Soltysova A; Urge O; Cmelova E; Kantarska D; Kadasi L
Gene; 2013 Sep; 526(2):347-55. PubMed ID: 23764561
[TBL] [Abstract][Full Text] [Related]
7. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.
Kozak L; Hrabincova E; Kintr J; Horky O; Zapletalova P; Blahakova I; Mejstrik P; Prochazkova D
Mol Genet Metab; 2006 Dec; 89(4):300-9. PubMed ID: 16931086
[TBL] [Abstract][Full Text] [Related]
8. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Birk Møller L; Nygren AO; Scott P; Hougaard P; Bieber Nielsen J; Hartmann C; Güttler F; Tyfield L; Zschocke J
Hum Mutat; 2007 Feb; 28(2):207. PubMed ID: 17221866
[TBL] [Abstract][Full Text] [Related]
9. [Six novel mutations in PAH gene detected by sequencing].
Zhang Z; He YS; Peng SX; Wang FH; Jiang JH; Jing RJ; Cheng G; Xu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Aug; 21(4):305-8. PubMed ID: 15300621
[TBL] [Abstract][Full Text] [Related]
10. [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Qiang R; Yu W; Cai N; Wang X; Qin C; Zhang L; Ma X; Wang L; Shi X; Liu H; Li X; Wang X; He J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):74-7. PubMed ID: 24510568
[TBL] [Abstract][Full Text] [Related]
11. Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.
Hamzehloei T; Hosseini SA; Vakili R; Mojarad M
Gene; 2012 Sep; 506(1):230-2. PubMed ID: 22763404
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y; Kudo S; Nishi Y; Sakaguchi T; Aso K
J Hum Genet; 2011 Apr; 56(4):306-12. PubMed ID: 21307867
[TBL] [Abstract][Full Text] [Related]
13. [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
GUO HJ; ZHAO ZH; JIANG M; SHI HR; KONG XD
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):142-6. PubMed ID: 21462123
[TBL] [Abstract][Full Text] [Related]
14. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
Shu JB; Meng YT; Dang LH; Fu BJ; Song L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
[TBL] [Abstract][Full Text] [Related]
15. [Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China].
Fang B
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1992 Feb; 14(1):46-50. PubMed ID: 1350519
[TBL] [Abstract][Full Text] [Related]
16. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
Lüleyap HU; Alptekin D; Pazarbaşi A; Kasap M; Kasap H; Demirhindi H; Mungan N; Ozer G; Froster UG
Mutat Res; 2006 Oct; 601(1-2):39-45. PubMed ID: 16765994
[TBL] [Abstract][Full Text] [Related]
17. [Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].
Sun G; Jiang L; Zhang X; Tong B; Dong G; Sun K
Yi Chuan Xue Bao; 1997; 24(6):492-5. PubMed ID: 9575658
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. The molecular basis of phenylketonuria in Latvia.
Pronina N; Giannattasio S; Lattanzio P; Lugovska R; Vevere P; Kornejeva A
Hum Mutat; 2003 Apr; 21(4):398-9. PubMed ID: 12655551
[TBL] [Abstract][Full Text] [Related]
20. [Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation].
Xu L; Miao S; Liu G
Zhonghua Yi Xue Za Zhi; 1996 Jun; 76(6):451-4. PubMed ID: 9275491
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
