A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. [electronic resource]
Producer: 20120514Description: e29708 p. digitalISSN:- 1932-6203
- Adult
- Female
- Frameshift Mutation -- genetics
- Histiocytosis -- genetics
- Humans
- Male
- Nose Diseases -- genetics
- Nucleoside Transport Proteins -- genetics
- Pedigree
- Phenotype
- Protein Biosynthesis -- genetics
- RNA Isoforms -- genetics
- RNA Splice Sites -- genetics
- RNA, Untranslated -- genetics
- Sequence Deletion
- Severity of Illness Index
- Siblings
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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