Á lódáil...
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid a...
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| Main Authors: | , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
1978
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685558/ https://ncbi.nlm.nih.gov/pubmed/655164 |
| Clibeanna: |
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