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Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp)

✍ Scribed by Ponjavic, Vesna ;Abrahamson, Magnus ;Andréasson, Sten ;Ehinger, Berndt ;Fex, Göran


Book ID
109339714
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
724 KB
Volume
75
Category
Article
ISSN
1395-3907

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Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of