Kretz K - Search Results

1

A 5' splice site mutation in fucosidosis.

Williamson M, Cragg H, Grant J, Kretz K, O'Brien J, Willems PJ, Young E, Winchester B. Williamson M, et al. Among authors: kretz k. J Med Genet. 1993 Mar;30(3):218-23. doi: 10.1136/jmg.30.3.218. J Med Genet. 1993. PMID: 8097260 Free PMC article.

2

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Willems PJ, Darby JK, DiCioccio RA, Nakashima P, Eng C, Kretz KA, Cavalli-Sforza LL, Shooter EM, O'Brien JS. Willems PJ, et al. Among authors: kretz ka. Am J Hum Genet. 1988 Nov;43(5):756-63. Am J Hum Genet. 1988. PMID: 2903668 Free PMC article.

3

Fucosidosis: four new mutations and a new polymorphism.

Seo HC, Willems PJ, Kretz KA, Martin BM, O'Brien JS. Seo HC, et al. Among authors: kretz ka. Hum Mol Genet. 1993 Apr;2(4):423-9. doi: 10.1093/hmg/2.4.423. Hum Mol Genet. 1993. PMID: 8504303

4

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.

Kretz KA, Darby JK, Willems PJ, O'Brien JS. Kretz KA, et al. J Mol Neurosci. 1989;1(3):177-80. doi: 10.1007/BF02918904. J Mol Neurosci. 1989. PMID: 2642067

5

Comparison of the canine and human acid beta-galactosidase gene.

Ahern-Rindell AJ, Kretz KA, O'Brien JS. Ahern-Rindell AJ, et al. Among authors: kretz ka. Am J Med Genet. 1996 May 17;63(2):340-5. doi: 10.1002/(SICI)1096-8628(19960517)63:2<340::AID-AJMG3>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8725782

6

Structure and sequence of the human alpha-L-fucosidase gene and pseudogene.

Kretz KA, Cripe D, Carson GS, Fukushima H, O'Brien JS. Kretz KA, et al. Genomics. 1992 Feb;12(2):276-80. doi: 10.1016/0888-7543(92)90374-2. Genomics. 1992. PMID: 1740336

7

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS. Kretz KA, et al. Proc Natl Acad Sci U S A. 1990 Apr;87(7):2541-4. doi: 10.1073/pnas.87.7.2541. Proc Natl Acad Sci U S A. 1990. PMID: 2320574 Free PMC article.

8

Direct sequencing of polymerase chain reaction products from low melting temperature agarose.

Kretz KA, O'Brien JS. Kretz KA, et al. Methods Enzymol. 1993;218:72-9. doi: 10.1016/0076-6879(93)18009-2. Methods Enzymol. 1993. PMID: 8510557 No abstract available.

9

Direct sequencing from low-melt agarose with Sequenase.

Kretz KA, Carson GS, O'Brien JS. Kretz KA, et al. Nucleic Acids Res. 1989 Jul 25;17(14):5864. doi: 10.1093/nar/17.14.5864. Nucleic Acids Res. 1989. PMID: 2762168 Free PMC article.

10

Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

Yamamoto Y, Hake CA, Martin BM, Kretz KA, Ahern-Rindell AJ, Naylor SL, Mudd M, O'Brien JS. Yamamoto Y, et al. Among authors: kretz ka. DNA Cell Biol. 1990 Mar;9(2):119-27. doi: 10.1089/dna.1990.9.119. DNA Cell Biol. 1990. PMID: 2111707

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