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Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
Genet Test Mol Biomarkers. 2010 Apr;14(2):225-31. doi: 10.1089/gtmb.2009.0118.
Genet Test Mol Biomarkers. 2010.
PMID: 20187762
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E.
Marziliano N, et al. Among authors: maggio pp.
Am J Med Genet A. 2007 May 1;143A(9):907-15. doi: 10.1002/ajmg.a.31653.
Am J Med Genet A. 2007.
PMID: 17394203
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