157 related articles for article (PubMed ID: 12596049)
1. Founder effect of the C9 R95X mutation in Orientals.
Khajoee V; Ihara K; Kira R; Takemoto M; Torisu H; Sakai Y; Guanjun J; Hee PM; Tokunaga K; Hara T
Hum Genet; 2003 Mar; 112(3):244-8. PubMed ID: 12596049
[TBL] [Abstract][Full Text] [Related]
2. Typing of the nt343C>T (R95X) allele of the C9 gene by PCR-SSP and the allele frequency of R95X in five ethnic populations.
Tsujimura R; Nishimukai H; Okiura T; Fukumori Y; Tanabe R; Orimoto C; Ueda N
Leg Med (Tokyo); 2009 Apr; 11 Suppl 1():S482-3. PubMed ID: 19261509
[TBL] [Abstract][Full Text] [Related]
3. A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.
Horiuchi T; Nishizaka H; Kojima T; Sawabe T; Niho Y; Schneider PM; Inaba S; Sakai K; Hayashi K; Hashimura C; Fukumori Y
J Immunol; 1998 Feb; 160(3):1509-13. PubMed ID: 9570574
[TBL] [Abstract][Full Text] [Related]
4. C9-R95X polymorphism in patients with neovascular age-related macular degeneration.
Nishiguchi KM; Yasuma TR; Tomida D; Nakamura M; Ishikawa K; Kikuchi M; Ohmi Y; Niwa T; Hamajima N; Furukawa K; Terasaki H
Invest Ophthalmol Vis Sci; 2012 Jan; 53(1):508-12. PubMed ID: 22190594
[TBL] [Abstract][Full Text] [Related]
5. Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.
Kira R; Ihara K; Takada H; Gondo K; Hara T
Hum Genet; 1998 Jun; 102(6):605-10. PubMed ID: 9703418
[TBL] [Abstract][Full Text] [Related]
6. Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan.
Kira R; Ihara K; Watanabe K; Kanemitsu S; Ahmed SU; Gondo K; Takeshita K; Hara T
J Hum Genet; 1999; 44(2):109-11. PubMed ID: 10083734
[TBL] [Abstract][Full Text] [Related]
7. Frequency and distribution of phenylketonuric mutations in Orientals.
Okano Y; Hase Y; Lee DH; Furuyama J; Shintaku H; Oura T; Isshiki G
Hum Mutat; 1992; 1(3):216-20. PubMed ID: 1301927
[TBL] [Abstract][Full Text] [Related]
8. High incidence of complement C9 deficiency in Koreans.
Kang HJ; Kim HS; Lee YK; Cho HC
Ann Clin Lab Sci; 2005; 35(2):144-8. PubMed ID: 15943177
[TBL] [Abstract][Full Text] [Related]
9. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
Yan D; Park HJ; Ouyang XM; Pandya A; Doi K; Erdenetungalag R; Du LL; Matsushiro N; Nance WE; Griffith AJ; Liu XZ
Hum Genet; 2003 Dec; 114(1):44-50. PubMed ID: 14505035
[TBL] [Abstract][Full Text] [Related]
10. Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Kim SY; Kim AR; Kim NK; Kim MY; Jeon EH; Kim BJ; Han YE; Chang MY; Park WY; Choi BY
J Transl Med; 2015 Aug; 13():263. PubMed ID: 26264712
[TBL] [Abstract][Full Text] [Related]
11. Comparison of linkage disequilibrium patterns and haplotype structure of eight single nucleotide polymorphisms across the CYP1A2 gene between the Korean, and other populations registered in the International HapMap database.
Woo SW; Kang TS; Park HJ; Lee JE; Roh J
J Clin Pharm Ther; 2009 Aug; 34(4):429-36. PubMed ID: 19583676
[TBL] [Abstract][Full Text] [Related]
12. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Tanahashi K; Sugiura K; Kono M; Takama H; Hamajima N; Akiyama M
PLoS One; 2014; 9(2):e89261. PubMed ID: 24586639
[TBL] [Abstract][Full Text] [Related]
13. Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.
Alvarez V; Coto E; Setién F; Spath PJ; López-Larrea C
Am J Med Genet; 1995 Feb; 55(4):408-13. PubMed ID: 7762578
[TBL] [Abstract][Full Text] [Related]
14. Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.
Park J; Kim M; Jang W; Chae H; Kim Y; Chung NG; Lee JW; Cho B; Jeong DC; Park IY; Park MS
Ann Hum Genet; 2015 May; 79(3):153-61. PubMed ID: 25703136
[TBL] [Abstract][Full Text] [Related]
15. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
Kartasasmita A; Fujiki K; Iskandar E; Sovani I; Fujimaki T; Murakami A
Ophthalmic Genet; 2011 Mar; 32(1):57-63. PubMed ID: 21174529
[TBL] [Abstract][Full Text] [Related]
16. Genetic polymorphisms of 16 Y chromosomal STR loci in Korean population.
Kim SH; Kim NY; Hong SB; Cho NS; Kim JJ; Han MS; Kim W
Forensic Sci Int Genet; 2008 Mar; 2(2):e9-10. PubMed ID: 19083802
[TBL] [Abstract][Full Text] [Related]
17. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese.
Akaba K; Kimura T; Sasaki A; Tanabe S; Ikegami T; Hashimoto M; Umeda H; Yoshida H; Umetsu K; Chiba H; Yuasa I; Hayasaka K
Biochem Mol Biol Int; 1998 Sep; 46(1):21-6. PubMed ID: 9784835
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
Hirai Y; Kodama Y; Moriwaki S; Noda A; Cullings HM; Macphee DG; Kodama K; Mabuchi K; Kraemer KH; Land CE; Nakamura N
Mutat Res; 2006 Oct; 601(1-2):171-8. PubMed ID: 16905156
[TBL] [Abstract][Full Text] [Related]
19. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
Dai J; Kim OH; Cho TJ; Miyake N; Song HR; Karasugi T; Sakazume S; Ikema M; Matsui Y; Nagai T; Matsumoto N; Ohashi H; Kamatani N; Nishimura G; Furuichi T; Takahashi A; Ikegawa S
J Hum Genet; 2011 May; 56(5):398-400. PubMed ID: 21412251
[TBL] [Abstract][Full Text] [Related]
20. Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E; Kim YM; Kim GH; Lee BH; Yoo HW; Choi JH
Mol Med; 2017 Jul; 23():149-154. PubMed ID: 28467518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
