Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

We analyzed the DNA sequence of the cDNA encoding the NH2 terminal region of beta spectrin from members of a kindred with autosomal dominant hereditary spherocytosis associated with defective protein 4.1 binding. We found a point mutation at codon 202 within the 272 amino acid NH2-terminal region of...

Celý popis

Podrobná bibliografie

Vydáno v:	J Clin Invest
Hlavní autoři:	Becker, P S, Tse, W T, Lux, S E, Forget, B G
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1993
Témata:	Research Article
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294892/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8102379/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116628
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!