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Protein Stability and in Vivo Concentration of Missense Mutations in Phenylalanine Hydroxylase

A previous computational analysis of missense mutations linked to monogenic disease found a high proportion of missense mutations affect protein stability, rather than other aspects of protein structure and function. The purpose of the present study is to relate the presence of such stability damagi...

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Autori principali: Shi, Zhen, Sellers, Jenn, Moult, John
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4170182/
https://ncbi.nlm.nih.gov/pubmed/21953985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prot.23159
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