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A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis.
Reported synonymous substitutions are generally non-pathogenic and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency SCID, the relevance of a non-reported synonymous variant was only suspected through the use of add...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Frontiers Media S.A.
2016-10-01
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| Sarja: | Frontiers in Immunology |
| Aiheet: | |
| Linkit: | http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00443/full |
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