Literature DB >> 1178039

Silent allele as genetic basis of fucosidosis.

B M Turner, N G Beratis, V S Turner, K Hirschhorn.   

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Year:  1975        PMID： 1178039     DOI： 10.1038/257391a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  13 in total

1.  Binding receptors for alpha-L-fucosidase in human B-lymphoid cell lines.

Authors:  R A Dicioccio; A L Miller
Journal:  Glycoconj J       Date:  1992-02       Impact factor: 2.916

2.  Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Authors:  P J Willems; J K Darby; R A DiCioccio; P Nakashima; C Eng; K A Kretz; L L Cavalli-Sforza; E M Shooter; J S O'Brien
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

3.  Localization of a gene for human alpha-galactosidase B (= n-acetyl-alpha-d-galactosaminidase) on chromosome 22.

Authors:  P G de Groot; A Westerveld; P Meera Khan; J M Tager
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

4.  Variation in alpha-L-fucosidase properties among 28 inbred mouse strains: six strains have high enzyme activity and heat-stabile enzyme with a variant pH-activity curve; twenty-two strains have low activity and heat-labile enzyme.

Authors:  W G Johnson; J L Hong
Journal:  Biochem Genet       Date:  1986-06       Impact factor: 1.890

5.  Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes.

Authors:  R Gatti; S Cavalieri; G Romeo
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

6.  Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

Authors:  J K Darby; P J Willems; P Nakashima; J Johnsen; R E Ferrell; E M Wijsman; D S Gerhard; N C Dracopoli; D Housman; J Henke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

7.  A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing.

Authors:  M Yang; R A DiCioccio
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

8.  Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

Authors:  R A DiCioccio; J K Darby; P J Willems
Journal:  Biochem Genet       Date:  1989-06       Impact factor: 1.890

9.  Biosynthesis, processing, and extracellular release of alpha-L-fucosidase in lymphoid cell lines of different genetic origins.

Authors:  R A DiCioccio; K S Brown
Journal:  Biochem Genet       Date:  1988-06       Impact factor: 1.890

Review 10.  Chromosome 1 in relation to human disease.

Authors:  S Povey; J M Parrington
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318
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