Identification and Characterization of a Novel Mutation in the Carbonic Anhydrase IV Gene that Causes Retinitis Pigmentosa

2007 ◽  
Vol 48 (8) ◽  
pp. 3459 ◽  
Author(s):  
Bernardo V. Alvarez ◽  
Eranga N. Vithana ◽  
Zhenglin Yang ◽  
Adrian H. Koh ◽  
Kit Yeung ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Carbonic Anhydrase Iv ◽  
Identification And Characterization

scholarly journals Identification and Characterization of a Novel Mutation M579Fs+75X in HERG

2011 ◽  
Vol 27 (Supplement) ◽  
pp. PJ3_045
Author(s):  
Yukiko Hata ◽  
Hisashi Mori ◽  
Ayumi Tanaka ◽  
Yosuke Fujita ◽  
Takeshi Shimomura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Identification And Characterization

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

scholarly journals Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV

2009 ◽  
Vol 106 (9) ◽  
pp. 3437-3442 ◽  
Author(s):  
R. Datta ◽  
A. Waheed ◽  
G. Bonapace ◽  
G. N. Shah ◽  
W. S. Sly
Keyword(s):  
Carbonic Anhydrase ◽  
Retinitis Pigmentosa ◽  
Carbonic Anhydrase Iv

Identification and Characterization of a Vitamin D3Response Element of Chicken Carbonic Anhydrase-II

1994 ◽  
Vol 13 (12) ◽  
pp. 1181-1187 ◽  
Author(s):  
ISABELLE QUÉLO ◽  
JEAN-PIERRE KAHLEN ◽  
ANNE RASCLE ◽  
PIERRE JURDIC ◽  
CARSTEN CARLBERG
Keyword(s):  
Carbonic Anhydrase ◽  
Carbonic Anhydrase Ii ◽  
Identification And Characterization

scholarly journals Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

2019 ◽  
Vol 36 ◽  
pp. 101426 ◽  
Author(s):  
Berta de la Cerda ◽  
Andrea Díez-Lloret ◽  
Beatriz Ponte ◽  
Laura Vallés-Saiz ◽  
Sofia M. Calado ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Ipsc Line ◽  
Human Ipsc

scholarly journals ER stress and apoptosis‐inducing mutations in carbonic anhydrase IV associated with retinitis pigmentosa (RP17) respond to chemical chaperones

2006 ◽  
Vol 20 (4) ◽  
Author(s):  
Abdul Waheed ◽  
Giuseppe Bonapace ◽  
Gul N. Shah ◽  
Timothy Becker ◽  
William S. Sly ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Retinitis Pigmentosa ◽  
Er Stress ◽  
Chemical Chaperones ◽  
Carbonic Anhydrase Iv
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