Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. [electronic resource]
Producer: 20090409Description: 412-7 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Anemia, Dyserythropoietic, Congenital -- genetics
- Cytochromes c -- genetics
- Electron Transport Complex IV
- Exocrine Pancreatic Insufficiency -- genetics
- Female
- Humans
- Hyperostosis -- genetics
- Male
- Molecular Sequence Data
- Mutation
- Protein Isoforms -- genetics
- RNA, Messenger -- genetics
- Skull -- pathology
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Publication Type: Journal Article
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