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Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF. Barbosa MD, et al. Among authors: dufourcq lagelouse r. Hum Mol Genet. 1997 Jul;6(7):1091-8. doi: 10.1093/hmg/6.7.1091. Hum Mol Genet. 1997. PMID: 9215680 Free PMC article.
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Stepp SE, et al. Among authors: dufourcq lagelouse r. Science. 1999 Dec 3;286(5446):1957-9. doi: 10.1126/science.286.5446.1957. Science. 1999. PMID: 10583959