Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 07

Lebersche kongenitale Amaurose 7 ist eine autosomal rezessive oder dominante Erkrankung, die auf Mutationen des CRX-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
CRX
Lebersche kongenitale Amaurose 08
Lebersche kongenitale Amaurose 09
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.

Furukawa T et. al. (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

[^]
2.

Freund CL et. al. (1998) De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

[^]
3.

Swaroop A et. al. (1999) Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

[^]
4.

Nakamura M et. al. (2002) Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

[^]
5.

Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

[^]