201 related articles for article (PubMed ID: 1338705)
1. [Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
Wang M
Zhonghua Yi Xue Za Zhi; 1992 Nov; 72(11):670-3, 702-3. PubMed ID: 1338705
[TBL] [Abstract][Full Text] [Related]
2. [Detection of the mutational gene in phenylketonuria and prenatal diagnoses by using single strand conformation polymorphism methods].
Yang T; Yuan L; Huang S
Zhonghua Fu Chan Ke Za Zhi; 1996 Jul; 31(7):401-3. PubMed ID: 9275410
[TBL] [Abstract][Full Text] [Related]
3. [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]
4. Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
Fang B; Yuan L; Wang M; Huang S; Wang T; Miao S; Ye J; Sun N; Lo H; Savio LC
Chin Med Sci J; 1992 Dec; 7(4):205-8. PubMed ID: 1307495
[TBL] [Abstract][Full Text] [Related]
5. [A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria].
Ivashchenko TE; Belova EG; Baranov VS
Genetika; 1993 May; 29(5):862-5. PubMed ID: 8335244
[TBL] [Abstract][Full Text] [Related]
6. Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.
Fan GX; Qing LX; Jun Y; Mei Z
Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():63-5. PubMed ID: 11400788
[TBL] [Abstract][Full Text] [Related]
7. [The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].
Yao FX; Guo H; Han JJ; Meng Y; Sun NH; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):382-6. PubMed ID: 17680525
[TBL] [Abstract][Full Text] [Related]
8. Modern techniques of differentiating the various phenotypes of phenylketonuria.
Guttler F
Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
[TBL] [Abstract][Full Text] [Related]
9. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
Růzicková S; Kozák L; Blazková M; Kapras J; St'astná S
Cas Lek Cesk; 1997 May; 136(9):282-5. PubMed ID: 9264877
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. [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]
12. [Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].
Wang N; Zhu Y; Xu K; Qiu Z; Song W; Huang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Feb; 16(1):9-11. PubMed ID: 9949232
[TBL] [Abstract][Full Text] [Related]
13. Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.
Kalanin J; Takarada Y; Kagawa S; Yamashita K; Ohtsuka N; Matsuoka A
Am J Med Genet; 1994 Jan; 49(2):235-9. PubMed ID: 8116675
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. 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]
16. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
17. [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]
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. [Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
Mao XM; He J; Liu Y; Li XQ; Yu WZ; Gao ZH; Cai J
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Mar; 16(3):259-62. PubMed ID: 24661517
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
