Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 09

Lebersche kongenitale Amaurose 9 ist eine autosomal rezessive Erkrankung, die auf Mutationen des NMNAT1-Gens beruht.

Gliederung

Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
Lebersche kongenitale Amaurose 02
Lebersche kongenitale Amaurose 03
Lebersche kongenitale Amaurose 04
Lebersche kongenitale Amaurose 05
Lebersche kongenitale Amaurose 06
Lebersche kongenitale Amaurose 07
Lebersche kongenitale Amaurose 08
Lebersche kongenitale Amaurose 09
NMNAT1
Lebersche kongenitale Amaurose 10
Lebersche kongenitale Amaurose 11
Lebersche kongenitale Amaurose 12
Lebersche kongenitale Amaurose 13
Lebersche kongenitale Amaurose 14
Lebersche kongenitale Amaurose 15
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18

Referenzen:

1.

Keen TJ et. al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

[^]
2.

Zhai RG et. al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.

[^]
3.

Falk MJ et. al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.

[^]
4.

Perrault I et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

[^]
5.

Koenekoop RK et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

[^]