Literature DB >> 9259203

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

R A Spritz1, S T Lee, K Fukai, K Brondum-Nielsen, D Chitayat, M H Lipson, M A Musarella, A Rosenmann, R G Weleber.   

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Year:  1997        PMID： 9259203     DOI： 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  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

2.  MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

Authors:  Richard A King; Rebecca K Willaert; Ramona M Schmidt; Jacy Pietsch; Sarah Savage; Marcia J Brott; James P Fryer; C Gail Summers; William S Oetting
Journal:  Am J Hum Genet       Date:  2003-07-22       Impact factor: 11.025

3.  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

4.  A novel porcine model reproduces human oculocutaneous albinism type II.

Authors:  Ying Zhang; Qianlong Hong; Chunwei Cao; Lizhu Yang; Yongshun Li; Tang Hai; Hongyong Zhang; Qi Zhou; Ruifang Sui; Jianguo Zhao
Journal:  Cell Discov       Date:  2019-10-08       Impact factor: 10.849

5.  Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Authors:  Linya Ma; Jianjian Zhu; Jing Wang; Yazhou Huang; Jibo Zhang; Chao Wang; Yuan Zhou; Dan Peng
Journal:  Front Genet       Date:  2021-10-11       Impact factor: 4.599
  5 in total

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