Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the polymerase chain reaction. Peripheral blood reticulocyte RNA was transcribed into cDNA and amplified u...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, Dhermy, D, Forget, B G
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296005/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2056132/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115307
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