scholarly journals Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa

2020 ◽  
Vol 8 (12) ◽  
Author(s):  
Li Cao ◽  
Chunyan Peng ◽  
Jing Yu ◽  
Wei Jiang ◽  
Jiyun Yang
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Chinese Families ◽  
Autosomal Dominant Retinitis Pigmentosa

scholarly journals Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families

BMJ Open ◽  
2013 ◽  
Vol 3 (11) ◽  
pp. e004030 ◽  
Author(s):  
Liping Yang ◽  
Xiaobei Yin ◽  
Lemeng Wu ◽  
Ningning Chen ◽  
Huirong Zhang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Exome Capture ◽  
Chinese Families ◽  
Autosomal Dominant Retinitis Pigmentosa

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
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