Title : Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

Pub. Date : 2018 Apr

PMID : 29362492






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. Histidine eukaryotic translation elongation factor 2 Homo sapiens