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Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

We studied the human ornithine aminotransferase (OAT) gene, mRNA, and enzyme activity in fibroblasts from a family with gyrate atrophy (G.A.) of the choroid and retina, using a normal human OAT cDNA as a probe. The family consists of an affected patient, who is heterozygous for a partial deletion of...

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Bibliographische Detailangaben
Hauptverfasser: Hotta, Y, Kennaway, N G, Weleber, R G, Inana, G
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1989
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715445/
https://ncbi.nlm.nih.gov/pubmed/2916581
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