Autosomal dominant retinitis pigmentosa: Absence of the rhodopsin proline→histidine substitution (codon 23) in pedigrees from Europe

In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been a...

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Bibliografische gegevens
Hoofdauteurs: Farrar, G. J., Kenna, P., Redmond, R., McWilliam, P., Bradley, D. G., Humphries, M. M., Sharp, E. M., Inglehearn, C. F., Bashir, R., Jay, M., Watty, A., Ludwig, M., Schinzel, A., Samanns, C., Gal, A., Bhattacharya, S., Humphries, P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1990
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683905/
https://ncbi.nlm.nih.gov/pubmed/2239971
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