Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance...
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Format: | Journal article |
Language: | English |
Published: |
National Academy of Sciences
2018
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