Literature DB >> 7874128

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

H C Seo1, M Yang, R Tonlorenzi, P J Willems, A H Kim, M Filocamo, R Gatti, R A DiCioccio, J S O'Brien.   

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Year:  1994        PMID： 7874128

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

1.  Fucosidosis: genetic and biochemical analysis of eight cases.

Authors:  H Cragg; M Williamson; E Young; J O'Brien; J Alhadeff; S Fang-Kircher; E Paschke; B Winchester
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Cloning, expression and map assignment of chicken prosaposin.

Authors:  N Azuma; H C Seo; O Lie; Q Fu; R M Gould; M Hiraiwa; D W Burt; I R Paton; D R Morrice; J S O'Brien; Y Kishimoto
Journal:  Biochem J       Date:  1998-02-15       Impact factor: 3.857

3.  Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.

Authors:  Zachary Armstrong; Richard W Meek; Liang Wu; James N Blaza; Gideon J Davies
Journal:  Structure       Date:  2022-07-29       Impact factor: 5.871

4.  The molecular defect underlying canine fucosidosis.

Authors:  B J Skelly; D R Sargan; M E Herrtage; B G Winchester
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

Review 5.  Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Authors:  Karolina M Stepien; Elżbieta Ciara; Aleksandra Jezela-Stanek
Journal:  Genes (Basel)       Date:  2020-11-22       Impact factor: 4.096
  5 in total

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