| Title: |
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect |
| Authors: |
Santoro, Massimo; Modoni, Anna; Sabatelli, Mario; Madia, Francesca; Piemonte, Fiorella; Tozzi, Giulia; Ricci, Enzo; Tonali, Pietro A.; Silvestri, Gabriella |
| Source: |
Molecular Genetics and Metabolism ; volume 91, issue 1, page 111-114 ; ISSN 1096-7192 |
| Publisher Information: |
Elsevier BV |
| Publication Year: |
2007 |
| Collection: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/j.ymgme.2006.12.004 |
| Availability: |
http://dx.doi.org/10.1016/j.ymgme.2006.12.004; https://api.elsevier.com/content/article/PII:S1096719206003878?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S1096719206003878?httpAccept=text/plain |
| Rights: |
https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; https://doi.org/10.15223/policy-017 ; https://doi.org/10.15223/policy-037 ; https://doi.org/10.15223/policy-012 ; https://doi.org/10.15223/policy-029 ; https://doi.org/10.15223/policy-004 |
| Accession Number: |
edsbas.3D8CC131 |
| Database: |
BASE |