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Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France.
J Crohns Colitis. 2023 May 3;17(5):816-820. doi: 10.1093/ecco-jcc/jjac181.
J Crohns Colitis. 2023.
PMID: 36480694
Free PMC article.
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C.
Gaignard P, et al. Among authors: azouguene e.
Gene. 2013 Jan 10;512(2):521-6. doi: 10.1016/j.gene.2012.09.124. Epub 2012 Oct 6.
Gene. 2013.
PMID: 23046579
Clinical Trial.
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Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C.
Giraud C, et al. Among authors: azouguene e.
Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25.
Biochem Biophys Res Commun. 2010.
PMID: 20100466
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