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Literature DB >> 7815431

Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.

H Cragg, B Winchester, H C Seo, J O'Brien, D Swallow.

Abstract

Entities: Gene Mutation Species

Mesh：

Substances：

Year: 1994 PMID： 7815431 PMCID： PMC1050044 DOI： 10.1136/jmg.31.8.659-a

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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10 in total

1. Polymorphism of human alpha fucosidase.

Authors: B M Turner; V S Turner; N G Beratis; K Hirschhorn
Journal: Am J Hum Genet Date: 1975-09 Impact factor: 11.025

2. Human liver alpha-L-fucosidase. Purification, characterization, and immunochemical studies.

Authors: J A Alhadeff; A L Miller; H Wenaas; T Vedvick; J S O'Brien
Journal: J Biol Chem Date: 1975-09-25 Impact factor: 5.157

3. Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2.

Authors: M L Fowler; H Nakai; M G Byers; H Fukushima; R L Eddy; W M Henry; L L Haley; J S O'Brien; T B Shows
Journal: Cytogenet Cell Genet Date: 1986

4. Human liver alpha-L-fucosidases.

Authors: D Robinson; R Thorpe
Journal: Clin Chim Acta Date: 1973-09-14 Impact factor: 3.786

5. Linkage between alpha-fucosidase and the rhesus blood group.

Authors: G Corney; R A Fisher; P J Cook; J Noades; E B Robson
Journal: Ann Hum Genet Date: 1977-05 Impact factor: 1.670

Review 6. Fucosidosis revisited: a review of 77 patients.

Authors: P J Willems; R Gatti; J K Darby; G Romeo; P Durand; J E Dumon; J S O'Brien
Journal: Am J Med Genet Date: 1991-01

7. Human alpha-L-fucosidase: complete coding sequence from cDNA clones.

Authors: T Occhiodoro; K R Beckmann; C P Morris; J J Hopwood
Journal: Biochem Biophys Res Commun Date: 1989-10-16 Impact factor: 3.575

8. A 5' splice site mutation in fucosidosis.

Authors: M Williamson; H Cragg; J Grant; K Kretz; J O'Brien; P J Willems; E Young; B Winchester
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318

9. Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.

Authors: K A Kretz; J K Darby; P J Willems; J S O'Brien
Journal: J Mol Neurosci Date: 1989 Impact factor: 3.444

10. Fucosidosis: four new mutations and a new polymorphism.

Authors: H C Seo; P J Willems; K A Kretz; B M Martin; J S O'Brien
Journal: Hum Mol Genet Date: 1993-04 Impact factor: 6.150