Literature DB >> 8956055

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

D Valverde1, M Baiget, R Seminago, E del Rio, B García-Sandoval, T del Rio, M Bayés, S Balcells, A Martínez, D Grinberg, C Ayuso.   

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Year:  1996        PMID： 8956055     DOI： 10.1002/humu.1380080403

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


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  3 in total

1.  Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Authors:  Kazuki Kuniyoshi; Hiroyuki Sakuramoto; Kazutoshi Yoshitake; Kazuho Ikeo; Masaaki Furuno; Kazushige Tsunoda; Shunji Kusaka; Yoshikazu Shimomura; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2015-04-01       Impact factor: 2.379

2.  Novel mutations in PDE6B causing human retinitis pigmentosa.

Authors:  Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
Journal:  Int J Ophthalmol       Date:  2016-08-18       Impact factor: 1.779

3.  Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.

Authors:  Shahbaz Ali; S Amer Riazuddin; Amber Shahzadi; Idrees A Nasir; Shaheen N Khan; Tayyab Husnain; Javed Akram; Paul A Sieving; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2011-05-25       Impact factor: 2.367
  3 in total

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