Alexandre Bolze Avinash Abhyankar Audrey V Grant Bhavi Patel Ruchi Yadav Minji Byun Daniel Caillez Jean-Francois Emile Marçal Pastor-Anglada Laurent Abel Anne Puel Rajgopal Govindarajan Loic de Pontual Jean-Laurent Casanova
10.1371/journal.pone.0029708
PLoS One
2012;7(1):e29708.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22238637/
Frameshift Mutation / genetics Histiocytosis / genetics Nose Diseases / genetics Nucleoside Transport Proteins / genetics RNA, Untranslated / genetics Sequence Deletion
Frameshift Mutation / genetics Histiocytosis / genetics Nose Diseases / genetics Nucleoside Transport Proteins / genetics RNA, Untranslated / genetics Sequence Deletion Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Female Humans Male Pedigree Phenotype Protein Biosynthesis / genetics RNA Isoforms / genetics RNA Splice Sites / genetics Severity of Illness Index Siblings Young Adult Nucleoside Transport Proteins RNA Isoforms RNA Splice Sites RNA, Untranslated SLC29A3 protein, human
PMC3251605
22238637
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
2012