An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1988
Onderwerpen:
Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC329615/
https://ncbi.nlm.nih.gov/pubmed/3339136
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items