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GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

✍ Scribed by Laura Gort; Natalia de Olano; Judit Macías-Vidal; Ma. Josep Coll

Book ID
116508999
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
201 KB
Volume
506
Category
Article
ISSN
0378-1119

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Molecular analysis of the HEXA gene in I
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✍ Anna Lisa E. Montalvo; Mirella Filocamo; Kristian Vlahoviček; Andrea Dardis; Sus 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 890 KB

Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1