Literature DB >> 8535449

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.

M Gomez-Lira1, C Perusi, N Brutti, M A Farnetani, M A Margollicci, N Rizzuto, P F Pignatti, A Salviati.   

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Year:  1995        PMID： 8535449     DOI： 10.1002/humu.1380060313

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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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.  P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.

Authors:  Zahra Rahmani; Arsham Banisadr; Vadieh Ghodsinezhad; Mohsen Dibaj; Omid Aryani
Journal:  Metab Brain Dis       Date:  2022-10-03       Impact factor: 3.655
  2 in total

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