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Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N. Sørensen CB, et al. Among authors: gregersen n. J Invest Dermatol. 1999 Feb;112(2):184-90. doi: 10.1046/j.1523-1747.1999.00495.x. J Invest Dermatol. 1999. PMID: 9989794 Free article.
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. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Among authors: gregersen n. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
[Keratin diseases].
Jensen PK, Sørensen CB, Andresen BS, Brandrup F, Veien NK, Buus SK, Gregersen N, Bolund L. Jensen PK, et al. Among authors: gregersen n. Ugeskr Laeger. 2000 Mar 27;162(13):1867-72. Ugeskr Laeger. 2000. PMID: 10765692 Review. Danish.
430 results