Literature DB >> 9475608

Splicing mutation causes infantile Sandhoff disease.

M Gomez-Lira1, C Perusi, M Mottes, P F Pignatti, N Rizzuto, R Gatti, A Salviati.   

Abstract

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Year:  1998        PMID： 9475608

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  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

2.  Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Authors:  Wen Zhang; Huasong Zeng; Yonglan Huang; Ting Xie; Jipeng Zheng; Xiaoyuan Zhao; Huiying Sheng; Hongsheng Liu; Li Liu
Journal:  Metab Brain Dis       Date:  2016-03-28       Impact factor: 3.584
  2 in total

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