Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 05

Lebersche kongenitale Amaurose 5 ist eine autosomal rezessive Erkrankung, die auf Mutationen des LCA5-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
LCA5
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
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18

Referenzen:

1.

Dharmaraj S et. al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.

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2.

Mohamed MD et. al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

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3.

Zernant J et. al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

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4.

den Hollander AI et. al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

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