Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Lebersche kongenitale Amaurose 18

Lebersche kongenitale Amaurose 18 ist eine autosomal rezessive oder dominante Erkrankung, die auf Mutationen des PRPH2-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
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18
PRPH2

Referenzen:

1.

Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

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2.

Kajiwara K et al. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

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3.

Farrar GJ et al. (1991) A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

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4.

Kikawa E et al. (1994) A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

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5.

Kajiwara K et al. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

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6.

Weleber RG et al. (1993) Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.

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7.

Wells J et al. (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

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8.

Manes G et al. (2015) High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

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9.

Jordan SA et al. (1992) Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

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10.

Farrar GJ et al. (1991) Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

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11.

OMIM.ORG article

Omim 608133 external link
Update: 14. August 2020
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