TITLE

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

AUTHOR(S)
Ghazawy, S.; Springell, K.; Gauba, V.; McKibbin, M. A.; Ingleheam, C. F.
PUB. DATE
October 2007
SOURCE
British Journal of Ophthalmology;Oct2007, Vol. 91 Issue 10, p1411
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
This article presents the case study of a family with visual disorder. It is stated that the visual acuity of each family member were determined at the Early Treatment Diabetic Retinopathy Study (ETDRS). Here, a new mutation in the processing factor 31 (PRPF31) gene is described concerning the clinical phenotype of the dominant retinitis pigmentosa acquired by the parent and children of the said family.
ACCESSION #
27181671

 

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