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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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.
Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N.
Andresen BS, et al.
Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8.
Am J Hum Genet. 2001.
PMID: 11349232
Free PMC article.
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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.
Nielsen KB, et al.
Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18.
Am J Hum Genet. 2007.
PMID: 17273963
Free PMC article.
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Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS.
Al-Hassnan ZN, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22.
J Inherit Metab Dis. 2010.
PMID: 20567907
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Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
Koster KL, Sturm M, Herebian D, Smits SH, Spiekerkoetter U.
Koster KL, et al.
J Inherit Metab Dis. 2014 Nov;37(6):917-28. doi: 10.1007/s10545-014-9732-5. Epub 2014 Jun 26.
J Inherit Metab Dis. 2014.
PMID: 24966162
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First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
Liang C, Jiang M, Sheng H, Cai Y, Wu D, Yin X, Peng M, Liu L.
Liang C, et al.
J Pediatr Endocrinol Metab. 2015 May;28(5-6):681-4. doi: 10.1515/jpem-2014-0058.
J Pediatr Endocrinol Metab. 2015.
PMID: 25503862
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