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Amino acid polymorphism (Gly209Ser) in the ACADS gene.
Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N. Kristensen MJ, et al. Among authors: kmoch s. Hum Mol Genet. 1994 Sep;3(9):1711. doi: 10.1093/hmg/3.9.1711-a. Hum Mol Genet. 1994. PMID: 7833941 No abstract available.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. Tanaka K, et al. Among authors: kmoch s. Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008. Pediatr Res. 1997. PMID: 9029639
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N. Andresen BS, et al. Among authors: kmoch s. Hum Mol Genet. 1997 May;6(5):695-707. doi: 10.1093/hmg/6.5.695. Hum Mol Genet. 1997. PMID: 9158144
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: kmoch s. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
158 results