Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lecithin-Retinol-Acyltransferase

Das LRAT-Gen kodiert ein Enzym des Retinol-Stoffwechsels. Mutationen verursachen Lebersche kongenitale Amaurose Typ 14.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Lebersche kongenitale Amaurose 14
LRAT

Referenzen:

1.

Xue L et. al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.

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2.

Maeda T et. al. (2009) Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

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3.

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.

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4.

Ruiz A et. al. (1999) Molecular and biochemical characterization of lecithin retinol acyltransferase.

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5.

Ruiz A et. al. (2001) Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.

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6.

Thompson DA et. al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

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7.

Sénéchal A et. al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

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