A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

By Ekström Ulf   Andréasson Sten   Ponjavic Vesna   Abrahamson Magnus   Sandgren Ola   Nilsson-Ehle Peter   Ehinger Berndt  

Ophthalmic Genetics, Vol. 19, Iss. 3, 1998-09 ,pp. : 149-156

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A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

By Yang Zhenglin   Li Yang   Jiang Li   Karan Goutam   Moshfeghi Darius   O'Connor Scott   Li Xi   Yu Zhengya   Lewis Hilel   Zack Donald   Jacobson Samuel   Zhang Kang  

Ophthalmic Genetics, Vol. 25, Iss. 2, 2004-06 ,pp. : 133-145

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Evaluation of the Peripherin/RDS Gene as a Candidate Gene in Families with Age-Related Macular Degeneration

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Ophthalmologica, Vol. 213, Iss. 3, 1999-04 ,pp. : 165-170

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A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

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Case Reports in Ophthalmology, Vol. 2, Iss. 3, 2011-09 ,pp. : 296-301

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Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

By Eksandh Louise   Bakall Benjamin   Bauer Birgitta   Wadelius Claes   Andréasson Sten  

Ophthalmic Genetics, Vol. 22, Iss. 2, 2001-06 ,pp. : 107-115

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