A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Hum Mutat
; 6(3): 260-2, 1995.
Article
in En
| MEDLINE
| ID: mdl-8535449
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sandhoff Disease
/
Beta-N-Acetylhexosaminidases
Type of study:
Etiology_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
1995
Document type:
Article
Affiliation country:
Italy
Country of publication:
United States