Scott HS - Search Results

1

Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF, Sutherland GR, Morris CP, Hopwood JJ. Scott HS, et al. Am J Hum Genet. 1990 Nov;47(5):802-7. Am J Hum Genet. 1990. PMID: 2220820 Free PMC article.

2

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

Scott HS, Litjens T, Hopwood JJ, Morris CP. Scott HS, et al. Hum Mutat. 1992;1(2):103-8. doi: 10.1002/humu.1380010204. Hum Mutat. 1992. PMID: 1301196

3

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP. Scott HS, et al. Hum Mutat. 1992;1(4):333-9. doi: 10.1002/humu.1380010412. Hum Mutat. 1992. PMID: 1301941

4

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

Scott HS, Litjens T, Hopwood JJ, Morris CP. Scott HS, et al. Hum Genet. 1992 Nov;90(3):327. doi: 10.1007/BF00220095. Hum Genet. 1992. PMID: 1362562

5

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.

Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP. Scott HS, et al. Genomics. 1992 Dec;14(4):1118-20. doi: 10.1016/s0888-7543(05)80145-4. Genomics. 1992. PMID: 1478658 No abstract available.

6

Structure and sequence of the human alpha-L-iduronidase gene.

Scott HS, Guo XH, Hopwood JJ, Morris CP. Scott HS, et al. Genomics. 1992 Aug;13(4):1311-3. doi: 10.1016/0888-7543(92)90053-u. Genomics. 1992. PMID: 1505961

7

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH. Koizumi T, et al. Among authors: scott hs. Mamm Genome. 1992;3(1):23-7. doi: 10.1007/BF00355837. Mamm Genome. 1992. PMID: 1533802

8

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.

Scott HS, Nelson PV, Cooper A, Wraith JE, Hopwood JJ, Morris CP. Scott HS, et al. Hum Genet. 1992 Mar;88(6):701-2. doi: 10.1007/BF02265303. Hum Genet. 1992. PMID: 1551679

9

PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.

Scott HS, Nelson PV, Hopwood JJ, Morris CP. Scott HS, et al. Nucleic Acids Res. 1991 Oct 25;19(20):5796. doi: 10.1093/nar/19.20.5796-a. Nucleic Acids Res. 1991. PMID: 1682883 Free PMC article.

10

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. MacDonald ME, et al. Among authors: scott hs. Somat Cell Mol Genet. 1991 Jul;17(4):421-5. doi: 10.1007/BF01233067. Somat Cell Mol Genet. 1991. PMID: 1832239

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