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A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Gomez-Lira, M; Perusi, C; Brutti, N; Farnetani, M A; Margollicci, M A; Rizzuto, N; Pignatti, P F; Salviati, A.
Affiliation
  • Gomez-Lira M; Istituto di Biologia e Genetica, Università di Verona, Italy.
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
Search on Google
Add to My VHL
Print
XML
PubMed Links

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