Literature DB >> 6421228

Genetic defects in glycoprotein metabolism.

T G Warner, J S O'Brien.   

Abstract

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Year:  1983        PMID： 6421228     DOI： 10.1146/annurev.ge.17.120183.002143

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


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  9 in total

1.  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

2.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.

Authors:  R M Cantor; C Roy; J S Lim; M M Kaback
Journal:  Am J Hum Genet       Date:  1987-07       Impact factor: 11.025

3.  Lectin histochemistry of gangliosidosis. I. Neural tissue in four mammalian species.

Authors:  J Alroy; V Goyal; C D Warren
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

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.  The lesions of an ovine lysosomal storage disease. Initial characterization.

Authors:  R D Murnane; D J Prieur; A J Ahern-Rindell; S M Parish; L L Collier
Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

6.  Lectin histochemistry of an ovine lysosomal storage disease with deficiencies of beta-galactosidase and alpha-neuraminidase.

Authors:  R D Murnane; A J Ahern-Rindell; D J Prieur
Journal:  Am J Pathol       Date:  1989-10       Impact factor: 4.307

7.  Human and canine fucosidosis: a comparative lectin histochemistry study.

Authors:  J Alroy; A A Ucci; C D Warren
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

8.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

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
  9 in total

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