261 related articles for article (PubMed ID: 24661517)
41. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C; Dobrowolski SF; Andersen HS; Demirkol M; Blau N; Andresen BS
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
42. [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]
43. [Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
Tang X; Chen H; Zhang Y; Li L; Mi H; Xu Q; Zhu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):153-7. PubMed ID: 25863075
[TBL] [Abstract][Full Text] [Related]
44. Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.
Yu X; Liu F; Wei B; Li M; Lu R; Pan L
Discov Med; 2023 Aug; 35(177):533-538. PubMed ID: 37553307
[TBL] [Abstract][Full Text] [Related]
45. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Groselj U; Tansek MZ; Kovac J; Hovnik T; Podkrajsek KT; Battelino T
Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
[TBL] [Abstract][Full Text] [Related]
46. A preliminary mutation analysis of phenylketonuria in southwest Iran.
Ajami N; Kazeminezhad SR; Foroughmand AM; Hasanpour M; Aminzadeh M
Genet Mol Res; 2013 Oct; 12(4):4958-66. PubMed ID: 24301756
[TBL] [Abstract][Full Text] [Related]
47. [The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].
Song F; Qu YJ; Yang YL; Jin YW; Zhang YM; Wang H; Yu WZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):241-6. PubMed ID: 17557229
[TBL] [Abstract][Full Text] [Related]
48. Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Hofman KJ; Antonarakis SE; Missiou-Tsangaraki S; Boehm CD; Valle D
Mol Biol Med; 1989 Jun; 6(3):245-50. PubMed ID: 2615649
[TBL] [Abstract][Full Text] [Related]
49. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.
Zhou YA; Ma YX; Zhang QB; Gao WH; Liu JP; Yang JP; Zhang GX; Zhang XG; Yu L
Genet Mol Biol; 2012 Dec; 35(4):709-13. PubMed ID: 23271928
[TBL] [Abstract][Full Text] [Related]
50. 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]
51. Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
Zekanowski C; Nowacka M; Gizewska M; Filipowicz J; Cabalska B; Bal J
Genet Test; 1999; 3(3):297-9. PubMed ID: 10495930
[TBL] [Abstract][Full Text] [Related]
52. Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.
Qiang R; Wang L; He J; Xu WJ; Li W; Cai N; Wang XB; Zhang R; Zhang LP; Ma XP; Wei C; Song C; Yu W; Wang X; Li X
Biosci Rep; 2021 Feb; 41(2):. PubMed ID: 33564846
[TBL] [Abstract][Full Text] [Related]
53. [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]
54. [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]
55. Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
Mallolas J; Campistol J; Lambruschini N; Vilaseca MA; Cambra FJ; Estivill X; Milà M
Hum Mutat; 1998; 11(6):482. PubMed ID: 10200057
[TBL] [Abstract][Full Text] [Related]
56. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A; Silva W; Carvalho T; Gomes M; Zago M
Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N; Jia H; Liu Z; Tao J; Chen S; Li X; Deng Y; Jin X; Song J; Zhang L; Liang Y; Wang W; Zhu J
Sci Rep; 2015 Oct; 5():15769. PubMed ID: 26503515
[TBL] [Abstract][Full Text] [Related]
59. A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
Esfahani MS; Vallian S
Eur J Med Genet; 2019 Sep; 62(9):103559. PubMed ID: 30389586
[TBL] [Abstract][Full Text] [Related]
60. Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T; Qin S; Ye J; Qiu W; Han L; Zhang Y; Gu X
Pediatr Res; 2010 Mar; 67(3):280-5. PubMed ID: 19915519
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
