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

Hee Chan Seo, Meiheng Yang, Rossana Tonlorenzi, Patrick J. Willems, Alex H. Kim, Mirelia Filocamo, Rossana Gatti, Richard A. DiCioccio, John S. O'Brien

Research output: Contribution to journalArticle

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)2065-2066
Number of pages2
JournalHuman Molecular Genetics
Volume3
Issue number11
Publication statusPublished - Nov 1994

ASJC Scopus subject areas

  • Genetics

Cite this

Seo, H. C., Yang, M., Tonlorenzi, R., Willems, P. J., Kim, A. H., Filocamo, M., ... O'Brien, J. S. (1994). A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient. Human Molecular Genetics, 3(11), 2065-2066.

A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient. / Seo, Hee Chan; Yang, Meiheng; Tonlorenzi, Rossana; Willems, Patrick J.; Kim, Alex H.; Filocamo, Mirelia; Gatti, Rossana; DiCioccio, Richard A.; O'Brien, John S.

In: Human Molecular Genetics, Vol. 3, No. 11, 11.1994, p. 2065-2066.

Research output: Contribution to journalArticle

Seo, HC, Yang, M, Tonlorenzi, R, Willems, PJ, Kim, AH, Filocamo, M, Gatti, R, DiCioccio, RA & O'Brien, JS 1994, 'A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient', Human Molecular Genetics, vol. 3, no. 11, pp. 2065-2066.
Seo, Hee Chan ; Yang, Meiheng ; Tonlorenzi, Rossana ; Willems, Patrick J. ; Kim, Alex H. ; Filocamo, Mirelia ; Gatti, Rossana ; DiCioccio, Richard A. ; O'Brien, John S. / A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 11. pp. 2065-2066.
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