7 results for author:"Nelson P.V." in Literature citations
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| Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype. Scott H.S., Nelson P.V., Litjens T., Hopwood J.J., Morris C.P. Hum. Mol. Genet. 2:1471-1473(1993) · UniProtKB (1) |
| Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Scott H.S., Litjens T., Nelson P.V., Thompson P.R., Brooks D.A., Hopwood J.J., Morris C.P. Am. J. Hum. Genet. 53:973-986(1993) · UniProtKB (1) |
| An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. Harvey J.S., Nelson P.V., Carey W.F., Robertson E.F., Morris C.P. Hum. Mutat. 2:261-267(1993) · UniProtKB (1) |
| Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Clarke L.A., Nelson P.V., Warrington C.L., Morris C.P., Hopwood J.J., Scott H.S. Hum. Mutat. 3:275-282(1994) · UniProtKB (1) |
| Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. Robertson D.A., Freeman C., Nelson P.V., Morris C.P., Hopwood J.J. Biochem. Biophys. Res. Commun. 157:218-224(1988) · UniProtKB (1) |
| Human alpha-L-iduronidase: cDNA isolation and expression. Scott H.S., Anson D.S., Orsborn A.M., Nelson P.V., Clements P.R., Morris C.P., Hopwood J.J. Proc. Natl. Acad. Sci. U.S.A. 88:9695-9699(1991) · UniProtKB (1) |
| Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Scott H.S., Litjens T., Nelson P.V., Brooks D.A., Hopwood J.J., Morris C.P. Hum. Mutat. 1:333-339(1992) · UniProtKB (1) |