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Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.

The first example of the premature termination of a polypeptide chain in man appears to be Hb McKees Rocks, beta145 Tyr leads to Term, discovered in polycythemic members of a Caucasian family. Point mutation has apparently occurred at the codon for Tyr beta145 from UAU to a "nonsense" codo...

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Autors principals: Winslow, R M, Swenberg, M L, Gross, E, Chervenick, P A, Buchman, R R, Anderson, W F
Format: Artigo
Idioma:Inglês
Publicat: 1976
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC436713/
https://ncbi.nlm.nih.gov/pubmed/1249207
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