Literature DB >> 3409541

Intrafamilial variability in fucosidosis.

P J Willems1, C A Garcia, M C De Smedt, R Martin-Jimenez, J K Darby, D A Duenas, D Granado-Villar, J S O'Brien.   

Abstract

Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or "modifying genes" different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.

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Year:  1988        PMID： 3409541     DOI： 10.1111/j.1399-0004.1988.tb02608.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

1.  Phenotypic heterogeneity and the single gene.

Authors:  G K Suthers; K E Davies
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

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.  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

4.  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

5.  Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism.

Authors:  R Medori; H J Tritschler
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  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

Review 7.  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
  7 in total

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