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Human Gene Therapy, ISSN 1043-0342, 03/2018, Volume 29, Issue 3, pp. 312 - 326
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2016, Volume 61, Issue 2, pp. 163 - 166
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. Molecular pathology is unknown... 
ALLELES | HEXB GENE | GM2 GANGLIOSIDOSIS | GENETICS & HEREDITY | beta-Hexosaminidase beta Chain - genetics | beta-Hexosaminidase beta Chain - metabolism | Humans | Child, Preschool | Sandhoff Disease - diagnosis | Sandhoff Disease - genetics | Infant | Mutation | Sandhoff Disease - enzymology
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2011, Volume 6, Issue 12, p. e29074
Journal Article
Journal Article
Journal Article
Journal Article