✦ LIBER ✦

Disease-causing novel mutations in the HEXA gene: study of 7 children with Tay-Sachs disease from India

✍ Scribed by Mistri, Mehul A.; Datar, Chaitanya; Sheth, Frenny; Gupta, Sarita; Sheth, Jayesh

Book ID: 122232753
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 62 KB
Volume: 111
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2013.12.180

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of Novel Mutations inHEXA

Identification of Novel Mutations inHEXAGene in Children Affected with Tay-Sachs Disease from India

✍ Mistri, Mehul; Datar, Chaitanya; Sheth, Frenny; Gupta, Sarita; Sheth, Jayesh 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 72 KB

Donor splice site mutation in intron 5 o

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

✍ H. A. Özkara; B. R. Akerman; G. Ciliv; M. Topçu; Y. Renda; R. A. Gravel 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Molecular analysis of the HEXA gene in I

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

✍ 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

An A-to-G Mutation at the +3-Position of

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

✍ M.M. Richard; G. Erenberg; B.L. Triggsraine 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 217 KB

Molecular analysis of HEXA gene in Argen

Molecular analysis of HEXA gene in Argentinean patients affected with Tay–Sachs disease: Possible common origin of the prevalent c.459 + 5A>G mutation

✍ Stefania Zampieri; Annalisa Montalvo; Mariana Blanco; Irene Zanin; Hernan Amarti 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 173 KB

Novel mutations, including the second mo

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

✍ A. Tanaka; Mutsuko Fujimaru; Kyuchul Choeh; Gen Isshiki 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 344 KB