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Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Among authors: revy p. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Revy P, et al. Cell. 2000 Sep 1;102(5):565-75. doi: 10.1016/s0092-8674(00)00079-9. Cell. 2000. PMID: 11007475 Free article.
104 results