Nelson PV - Search Results

1

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. Among authors: nelson pv. Hum Genet. 1992 Mar;88(6):701-2. doi: 10.1007/BF02265303. Hum Genet. 1992. PMID: 1551679

2

Population frequency of the arylsulphatase A pseudo-deficiency allele.

Nelson PV, Carey WF, Morris CP. Nelson PV, et al. Hum Genet. 1991 May;87(1):87-8. doi: 10.1007/BF01213099. Hum Genet. 1991. PMID: 1674719

3

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.

Scott HS, Nelson PV, Hopwood JJ, Morris CP. Scott HS, et al. Among authors: nelson pv. Nucleic Acids Res. 1991 Nov 25;19(22):6348. doi: 10.1093/nar/19.22.6348-a. Nucleic Acids Res. 1991. PMID: 1835536 Free PMC article.

4

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ. Wilson PJ, et al. Among authors: nelson pv. Hum Genet. 1991 Mar;86(5):505-8. doi: 10.1007/BF00194643. Hum Genet. 1991. PMID: 1901826

5

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).

Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ. Wraith JE, et al. Among authors: nelson pv. Hum Genet. 1991 Jun;87(2):205-6. doi: 10.1007/BF00204183. Hum Genet. 1991. PMID: 1906048

6

Human alpha-L-iduronidase: cDNA isolation and expression.

Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ. Scott HS, et al. Among authors: nelson pv. Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9695-9. doi: 10.1073/pnas.88.21.9695. Proc Natl Acad Sci U S A. 1991. PMID: 1946389 Free PMC article.

7

Identification of a cystic fibrosis mutation: deletion of isoleucine506.

Nelson PV, Carey WF, Morris CP. Nelson PV, et al. Hum Genet. 1991 Feb;86(4):391-3. doi: 10.1007/BF00201841. Hum Genet. 1991. PMID: 1999342

8

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP. Scott HS, et al. Among authors: nelson pv. Am J Hum Genet. 1993 Nov;53(5):973-86. Am J Hum Genet. 1993. PMID: 8213840 Free PMC article.

9

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

Scott HS, Nelson PV, Litjens T, Hopwood JJ, Morris CP. Scott HS, et al. Among authors: nelson pv. Hum Mol Genet. 1993 Sep;2(9):1471-3. doi: 10.1093/hmg/2.9.1471. Hum Mol Genet. 1993. PMID: 8242073 No abstract available.

10

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. Among authors: nelson pv. Hum Mutat. 1992;1(4):333-9. doi: 10.1002/humu.1380010412. Hum Mutat. 1992. PMID: 1301941

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

51 results

Search Page

Filters