Edwin Naylor to Molecular Sequence Data
This is a "connection" page, showing publications Edwin Naylor has written about Molecular Sequence Data.
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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn. 2003 Feb; 5(1):42-7.
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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995 May; 37(5):675-8.
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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001 Jun; 68(6):1408-18.
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Molecular diagnosis of cystic fibrosis. Clin Lab Med. 1995 Dec; 15(4):877-98.
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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74.
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