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The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Nat Immunol. 2008 Nov;9(11):1307-15. doi: 10.1038/ni.1662. Epub 2008 Oct 5.
Nat Immunol. 2008.
PMID: 18836449
Free PMC article.
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM.
Lebet T, et al.
Genet Med. 2008 Aug;10(8):575-85. doi: 10.1097/gim.0b013e31818063bc.
Genet Med. 2008.
PMID: 18641513
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