Seo HC - Search Results

1

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS. Seo HC, et al. Hum Mol Genet. 1994 Nov;3(11):2065-6. Hum Mol Genet. 1994. PMID: 7874128 No abstract available.

2

A nonsense mutation in two German patients with fucosidosis.

Seo HC, Heidemann PH, Lutz E, O'Brien JS. Seo HC, et al. Hum Mutat. 1995;6(2):184-5. doi: 10.1002/humu.1380060213. Hum Mutat. 1995. PMID: 7581404 No abstract available.

3

A single-base deletion mutation in a Turkish patient with fucosidosis.

Seo HC, Kunze J, Willems PJ, Kim AH, Hanefeld F, O'Brien JS. Seo HC, et al. Hum Mutat. 1994;3(4):407-8. doi: 10.1002/humu.1380030416. Hum Mutat. 1994. PMID: 8081399 No abstract available.

4

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

Seo HC, Willems PJ, O'Brien JS. Seo HC, et al. Hum Mol Genet. 1993 Aug;2(8):1205-8. doi: 10.1093/hmg/2.8.1205. Hum Mol Genet. 1993. PMID: 8401503

5

Fucosidosis: four new mutations and a new polymorphism.

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

6

A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.

Seo HC, Yang M, Kim AH, O'Brien JS, DiCioccio RA, Gordon BA. Seo HC, et al. Hum Mutat. 1996;7(2):183. doi: 10.1002/humu.1380070203. Hum Mutat. 1996. PMID: 8829645 No abstract available.

7

Fucosidosis with dystonia.

Gordon BA, Gordon KE, Seo HC, Yang M, DiCioccio RA, O'Brien JS. Gordon BA, et al. Among authors: seo hc. Neuropediatrics. 1995 Dec;26(6):325-7. doi: 10.1055/s-2007-979784. Neuropediatrics. 1995. PMID: 8719750

8

Spectrum of mutations in fucosidosis.

Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS. Willems PJ, et al. Among authors: seo hc. Eur J Hum Genet. 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272. Eur J Hum Genet. 1999. PMID: 10094192 Review.

9

Identification of prosaposin as a neurotrophic factor.

O'Brien JS, Carson GS, Seo HC, Hiraiwa M, Kishimoto Y. O'Brien JS, et al. Among authors: seo hc. Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9593-6. doi: 10.1073/pnas.91.20.9593. Proc Natl Acad Sci U S A. 1994. PMID: 7937812 Free PMC article.

10

Identification of the neurotrophic factor sequence of prosaposin.

O'Brien JS, Carson GS, Seo HC, Hiraiwa M, Weiler S, Tomich JM, Barranger JA, Kahn M, Azuma N, Kishimoto Y. O'Brien JS, et al. Among authors: seo hc. FASEB J. 1995 May;9(8):681-5. doi: 10.1096/fasebj.9.8.7768361. FASEB J. 1995. PMID: 7768361

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