Literature DB >> 1487253

Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.

P A Bolhuis1, H Bikker.   

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Year:  1992        PMID： 1487253     DOI： 10.1007/bf00220096

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  6 in total

Review 1.  Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.

Authors:  E F Neufeld
Journal:  J Biol Chem       Date:  1989-07-05       Impact factor: 5.157

2.  Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

Authors:  K Neote; B Bapat; A Dumbrille-Ross; C Troxel; S M Schuster; D J Mahuran; R A Gravel
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

3.  Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

Authors:  B F O'Dowd; M H Klavins; H F Willard; R Gravel; J A Lowden; D J Mahuran
Journal:  J Biol Chem       Date:  1986-09-25       Impact factor: 5.157

4.  Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Authors:  K Neote; B McInnes; D J Mahuran; R A Gravel
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

5.  Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.

Authors:  H Bikker; F M van den Berg; R A Wolterman; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

6.  Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.

Authors:  H Bikker; F M van den Berg; R A Wolterman; W J Kleijer; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132
  6 in total
  4 in total

1.  Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

Authors:  Parag M Tamhankar; Mehul Mistri; Pratima Kondurkar; Daksha Sanghavi; Jayesh Sheth
Journal:  J Hum Genet       Date:  2015-11-19       Impact factor: 3.172

2.  Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Authors:  Stefania Zampieri; Mirella Filocamo; Emanuele Buratti; Marina Stroppiano; Kristian Vlahovicek; Natalia Rosso; Eleonora Bignulin; Stefano Regis; Franco Carnevale; Bruno Bembi; Andrea Dardis
Journal:  Neurogenetics       Date:  2008-08-29       Impact factor: 2.660

3.  A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Authors:  M Gomez-Lira; A Sangalli; M Mottes; C Perusi; P F Pignatti; N Rizzuto; A Salviati
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

4.  Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Authors:  Stefania Zampieri; Silvia Cattarossi; Ana Maria Oller Ramirez; Camillo Rosano; Charles Marques Lourenco; Nadia Passon; Isabella Moroni; Graziella Uziel; Antonella Pettinari; Franco Stanzial; Raquel Dodelson de Kremer; Nydia Beatriz Azar; Filiz Hazan; Mirella Filocamo; Bruno Bembi; Andrea Dardis
Journal:  PLoS One       Date:  2012-07-27       Impact factor: 3.240
  4 in total

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