Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca v1.4 L-type Ca2+ channels

Journal of Neuroscience

Volumn 25, Issue 1, 2005, Pages 252-259

  Hoda, Jean Charles ^a   Zaghetto, Francesca ^a,b   Koschak, Alexandra ^a   Striessnig, Jörg ^a,c  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b UNIVERSITY OF PADOVA   (Italy)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Channelopathies; Congenital stationary night blindness; Genetic diseases; Missense mutations; Sensory cells; Voltage gated Ca2+ channels

Indexed keywords

1,4 DIHYDRO 2,6 DIMETHYL 5 NITRO 4 [2 (TRIFLUOROMETHYL)PHENYL] 3 PYRIDINECARBOXYLIC ACID METHYL ESTER; BARIUM; CALCIUM; VOLTAGE GATED CALCIUM CHANNEL;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN EMBRYO; KIDNEY CELL; MISSENSE MUTATION; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PRIORITY JOURNAL; WILD TYPE; XENOPUS LAEVIS;

ANIMALS; CALCIUM CHANNELS, L-TYPE; ELECTROPHYSIOLOGY; HUMANS; ION CHANNEL GATING; MUTATION; MUTATION, MISSENSE; NIGHT BLINDNESS; TRANSFECTION; XENOPUS LAEVIS;

EID: 12144263195     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3054-04.2005     Document Type: Article

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