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Genotype-phenotype pitfalls in Gaucher disease.
Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT. Strasberg PM, et al. Among authors: callahan jw. J Clin Lab Anal. 1994;8(4):228-36. doi: 10.1002/jcla.1860080409. J Clin Lab Anal. 1994. PMID: 7931818 Review.
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT. McCready ME, et al. Among authors: callahan jw. Mol Genet Metab. 2007 Dec;92(4):325-35. doi: 10.1016/j.ymgme.2007.07.006. Epub 2007 Aug 27. Mol Genet Metab. 2007. PMID: 17723315
126 results