Literature DB >> 12687678

High frequency of the Ala481Thr mutation of the P gene in the Japanese population.

Tamio Suzuki, Yoshinori Miyamura, Yasushi Tomita.   

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Year:  2003        PMID： 12687678     DOI： 10.1002/ajmg.a.20044

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

Authors:  David L Duffy; Grant W Montgomery; Wei Chen; Zhen Zhen Zhao; Lien Le; Michael R James; Nicholas K Hayward; Nicholas G Martin; Richard A Sturm
Journal:  Am J Hum Genet       Date:  2006-12-20       Impact factor: 11.025

2.  OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Authors:  Isao Yuasa; Kazuo Umetsu; Shinji Harihara; Aya Miyoshi; Naruya Saitou; Kyung Sook Park; Bumbein Dashnyam; Feng Jin; Gérard Lucotte; Prasanta K Chattopadhyay; Lotte Henke; Jürgen Henke
Journal:  J Hum Genet       Date:  2007-06-14       Impact factor: 3.172

3.  Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Authors:  Jochen Graw; Norman Klopp; Thomas Illig; Markus N Preising; Birgit Lorenz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-02-02       Impact factor: 3.117

4.  A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

Authors:  Richard A Sturm; David L Duffy; Zhen Zhen Zhao; Fabio P N Leite; Mitchell S Stark; Nicholas K Hayward; Nicholas G Martin; Grant W Montgomery
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

5.  Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Authors:  Qi Yang; Sheng Yi; Mengting Li; Bobo Xie; Jinsi Luo; Jin Wang; Xiuliang Rong; Qinle Zhang; Zailong Qin; Limei Hang; Shihan Feng; Xin Fan
Journal:  BMC Med Genet       Date:  2019-06-13       Impact factor: 2.103

6.  Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Authors:  Chihiro Endo; Todd A Johnson; Ryoko Morino; Kazuyuki Nakazono; Shigeo Kamitsuji; Masanori Akita; Maiko Kawajiri; Tatsuya Yamasaki; Azusa Kami; Yuria Hoshi; Asami Tada; Kenichi Ishikawa; Maaya Hine; Miki Kobayashi; Nami Kurume; Yuichiro Tsunemi; Naoyuki Kamatani; Makoto Kawashima
Journal:  Sci Rep       Date:  2018-06-12       Impact factor: 4.379

7.  The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Authors:  Kenneth K Kidd; Andrew J Pakstis; Michael P Donnelly; Ozlem Bulbul; Lotfi Cherni; Cemal Gurkan; Longli Kang; Hui Li; Libing Yun; Peristera Paschou; Kelly A Meiklejohn; Eva Haigh; William C Speed
Journal:  Sci Rep       Date:  2020-09-22       Impact factor: 4.379
  7 in total

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