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A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.
Helmering J, Juan T, Li CM, Chhoa M, Baron W, Gyuris T, Richards WG, Turk JR, Lawrence J, Cosgrove PA, Busby J, Kim KW, Kaufman SA, Cummings C, Carlson G, Véniant MM, Lloyd DJ. Helmering J, et al. Among authors: chhoa m. Lipids Health Dis. 2014 Oct 31;13:167. doi: 10.1186/1476-511X-13-167. Lipids Health Dis. 2014. PMID: 25361754 Free PMC article.
Nucleotide insertions and deletions complement point mutations to massively expand the diversity created by somatic hypermutation of antibodies.
Bowers PM, Verdino P, Wang Z, da Silva Correia J, Chhoa M, Macondray G, Do M, Neben TY, Horlick RA, Stanfield RL, Wilson IA, King DJ. Bowers PM, et al. Among authors: chhoa m. J Biol Chem. 2014 Nov 28;289(48):33557-67. doi: 10.1074/jbc.M114.607176. Epub 2014 Oct 15. J Biol Chem. 2014. PMID: 25320089 Free PMC article.