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Incomplete X-linked congenital stationary night blindness

Incomplete X-linked Congenital Stationary Night Blindness (IXLCSNB)... [Pg.228]

Figure 3. Mutations in the human Cav1.4 (L-type) voltage-gated calcium channel associated with Incomplete X-linked Congenital Stationary Night Blindness (IXLCSNB)... Figure 3. Mutations in the human Cav1.4 (L-type) voltage-gated calcium channel associated with Incomplete X-linked Congenital Stationary Night Blindness (IXLCSNB)...
Table 3. CACNA1F (Cav 1.4, 1F) Functional results for mutations associated with IXLCSNB = incomplete X-linked congenital stationary night blindness and X-linked cone-rode dystrophy (although addition mutations have been associated with IXLCSNB, only those with functional data completed are listed)... Table 3. CACNA1F (Cav 1.4, 1F) Functional results for mutations associated with IXLCSNB = incomplete X-linked congenital stationary night blindness and X-linked cone-rode dystrophy (although addition mutations have been associated with IXLCSNB, only those with functional data completed are listed)...
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM (1998) Loss-of-function mutations in a calcium-channel alphal-subunit gene in Xpll.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 19 264-7... [Pg.65]

See other pages where Incomplete X-linked congenital stationary night blindness is mentioned: [Pg.215]    [Pg.228]    [Pg.228]    [Pg.215]    [Pg.228]    [Pg.228]   
See also in sourсe #XX -- [ Pg.215 , Pg.228 , Pg.229 ]



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Blind

Blinding

Congenital

Incomplete

Incomplete X-linked congenital stationary night

Incompleteness

Night blindness

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