Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.
Testa, F
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. [electronic resource] - European journal of ophthalmology - 779-81 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1120-6721
10.1177/112067210601600524 doi
Carrier Proteins--genetics
DNA--genetics
Electroretinography
Female
Humans
Italy
Male
Mutation
Ophthalmoscopy
Pedigree
Phenotype
RNA-Binding Proteins
Retinitis Pigmentosa--diagnosis
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. [electronic resource] - European journal of ophthalmology - 779-81 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1120-6721
10.1177/112067210601600524 doi
Carrier Proteins--genetics
DNA--genetics
Electroretinography
Female
Humans
Italy
Male
Mutation
Ophthalmoscopy
Pedigree
Phenotype
RNA-Binding Proteins
Retinitis Pigmentosa--diagnosis