Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

2018 ◽  
Vol 39 (3) ◽  
pp. 357-365 ◽  
Author(s):  
Satoshi Katagiri ◽  
Takaaki Hayashi ◽  
Kei Mizobuchi ◽  
Kazutoshi Yoshitake ◽  
Takeshi Iwata ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Disease Haplotype

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽  
1994 ◽  
Vol 21 (2) ◽  
pp. 461-463 ◽  
Author(s):  
Rajani Vaithinathan ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

scholarly journals Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
María José Gamundi ◽  
Imma Hernan ◽  
María Martínez-Gimeno ◽  
Miquel Maseras ◽  
Blanca García-Sandoval ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Spanish Population ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
The Common

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

1994 ◽  
Vol 3 (2) ◽  
pp. 351-354 ◽  
Author(s):  
Mai Al-Maghtheh ◽  
Chris F. Inglehearn ◽  
T. Keen Jeffrey ◽  
Kevin Evans ◽  
Anthony T. Moore ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Chromosome 19 ◽  
Autosomal Dominant Retinitis Pigmentosa
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