Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Author:

Ullah Inayat,Kabir Firoz,Gottsch Clare Brooks S,Naeem Muhammad Asif,Guru Aditya A,Ayyagari Radha,Khan Shaheen N,Riazuddin Sheikh,Akram Javed,Riazuddin S Amer

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Reference12 articles.

1. Hartong DT, Berson EL, Dryja TP . Retinitis pigmentosa. Lancet 2006; 368: 1795–1809.

2. Berson EL . Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 1993; 34: 1659–1676.

3. Bird AC . Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture. Am J Ophthalmol 1995; 119: 543–562.

4. Fung BK, Young JH, Yamane HK, Griswold-Prenner I . Subunit stoichiometry of retinal rod cGMP phosphodiesterase. Biochemistry 1990; 29: 2657–2664.

5. Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X et al. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis 2006; 12: 1283–1291.

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