Isolation and Characterization of a Calcium Channel Gene, Cacna1f, the Murine Orthologue of the Gene for Incomplete X-Linked Congenital Stationary Night Blindness

Genomics ◽  
2000 ◽  
Vol 66 (3) ◽  
pp. 324-327 ◽  
Author(s):  
Margaret J. Naylor ◽  
Derrick E. Rancourt ◽  
N.Torben Bech-Hansen
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Channel Gene ◽  
Isolation And Characterization

scholarly journals Biophysical characterization of CaV1.4 L-type calcium channel mutants causing congenital stationary night blindness type 2 in humans

2012 ◽  
Vol 13 (Suppl 1) ◽  
pp. A69
Author(s):  
Klaus W Schicker ◽  
Verena Burtscher ◽  
Dagmar Knoflach ◽  
Anamika Singh ◽  
Thomas Stockner ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Biophysical Characterization

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

10.1038/940 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 260-263 ◽  
Author(s):  
Tim M. Strom ◽  
Gerald Nyakatura ◽  
Eckart Apfelstedt-Sylla ◽  
Heide Hellebrand ◽  
Birgit Lorenz ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Channel Gene

Isolation and characterization of the human CLC-5 chloride channel gene promoter

Gene ◽  
2000 ◽  
Vol 261 (2) ◽  
pp. 355-364 ◽  
Author(s):  
Atsushi Hayama ◽  
Shinichi Uchida ◽  
Sei Sasaki ◽  
Fumiaki Marumo
Keyword(s):  
Chloride Channel ◽  
Gene Promoter ◽  
Channel Gene ◽  
Isolation And Characterization

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

10.1038/947 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 264-267 ◽  
Author(s):  
N. Torben Bech-Hansen ◽  
Margaret J. Naylor ◽  
Tracy A. Maybaum ◽  
William G. Pearce ◽  
Ben Koop ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Subunit Gene ◽  
Α1 Subunit

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

2001 ◽  
Vol 108 (2) ◽  
pp. 91-97 ◽  
Author(s):  
Kym Boycott ◽  
Tracy Maybaum ◽  
Margaret Naylor ◽  
Richard Weleber ◽  
Johane Robitaille ◽  
...  
Keyword(s):  
Night Blindness ◽  
Splice Variants ◽  
Congenital Stationary Night Blindness

Isolation and Characterization of Kidney-Specific CLC-K2 Chloride Channel Gene Promoter

1999 ◽  
Vol 261 (2) ◽  
pp. 432-438 ◽  
Author(s):  
Tatemitsu Rai ◽  
Shinichi Uchida ◽  
Sei Sasaki ◽  
Fumiaki Marumo
Keyword(s):  
Chloride Channel ◽  
Gene Promoter ◽  
Channel Gene ◽  
Isolation And Characterization

scholarly journals Isolation and characterization of a fraction from brain that inhibits 1,4-[3 H]dihydropyridine binding and L-type calcium channel current

FEBS Letters ◽  
1988 ◽  
Vol 239 (2) ◽  
pp. 233-236 ◽  
Author(s):  
R.A. Janis ◽  
A.V. Shrikhande ◽  
D.E. Johnson ◽  
R.T. McCarthy ◽  
A.D. Howard ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Channel Current ◽  
Isolation And Characterization
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