Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 15

Lebersche kongenitale Amaurose 15 ist eine autosomal rezessive Erkrankung, die auf Mutationen des TULP1-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
Lebersche kongenitale Amaurose 10
Lebersche kongenitale Amaurose 11
Lebersche kongenitale Amaurose 12
Lebersche kongenitale Amaurose 13
Lebersche kongenitale Amaurose 14
Lebersche kongenitale Amaurose 15
TULP1
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18

Referenzen:

1.

Gu SM et. al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

[^]
2.

Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

[^]
3.

Mataftsi A et. al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

[^]
4.

den Hollander AI et. al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

[^]