scholarly journals A Nonsense Mutation inFAM161AIs a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

2015 ◽  
Vol 56 (12) ◽  
pp. 7418 ◽  
Author(s):  
Kristof Van Schil ◽  
B. Jeroen Klevering ◽  
Bart P. Leroy ◽  
Jan Willem R. Pott ◽  
Dikla Bandah-Rozenfeld ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Founder Allele

A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa

2010 ◽  
Vol 32 (1) ◽  
pp. 57-63 ◽  
Author(s):  
Arief Kartasasmita ◽  
Keiko Fujiki ◽  
Erwin Iskandar ◽  
Iwan Sovani ◽  
Takuro Fujimaki ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Rhodopsin Gene

scholarly journals Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

2010 ◽  
Vol 94 (8) ◽  
pp. 1094-1099 ◽  
Author(s):  
A. Shahzadi ◽  
S. A. Riazuddin ◽  
S. Ali ◽  
D. Li ◽  
S. N. Khan ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Pakistani Family

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

2021 ◽  
pp. 1-8
Author(s):  
Moustafa Magliyah ◽  
Abdulaziz A. Alshamrani ◽  
Patrik Schatz ◽  
Ibrahim Taskintuna ◽  
Yahya Alzahrani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Spectrum ◽  
Genetic Associations

scholarly journals A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

1998 ◽  
Vol 35 (2) ◽  
pp. 141-145 ◽  
Author(s):  
M Bayes ◽  
B Goldaracena ◽  
A Martinez-Mir ◽  
M I Iragui-Madoz ◽  
T Solans ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in theMAKGene

2011 ◽  
Vol 52 (13) ◽  
pp. 9665 ◽  
Author(s):  
Edwin M. Stone ◽  
Xunda Luo ◽  
Elise Héon ◽  
Byron L. Lam ◽  
Richard G. Weleber ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Novel Null Mutations in theEYSGene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

2010 ◽  
Vol 51 (9) ◽  
pp. 4387 ◽  
Author(s):  
Dikla Bandah-Rozenfeld ◽  
Karin W. Littink ◽  
Tamar Ben-Yosef ◽  
Tim M. Strom ◽  
Itay Chowers ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Israeli Population

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome
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