✦ LIBER ✦

Aberrant tau splicing caused by mutations associated with inherited dementia

✍ Scribed by Jane Wu; Zhi Hong Jiang; Jocelyn Cote; Jennifer M. Kwon; Alison M. Goate; Sophie Dupuis

Book ID: 117411640
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 154 KB
Volume: 21
Category: Article
ISSN: 0197-4580
DOI: 10.1016/s0197-4580(00)82489-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Association of missense and 5′-splice-si

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

✍ Hutton, Mike; Heutink, Peter; Lendon, Corinne L.; Rizzu, Patrizia; Baker, Matt; 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 305 KB

Association of missense and 5′-splice-si

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

✍ Hutton, Mike; Heutink, Peter; Lendon, Corinne L.; Rizzu, Patrizia; Baker, Matt; 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 305 KB

Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. Most FTDP-17 cases show neuronal and/or glial inclusions that stain positively with antibodies r

Welander Distal Myopathy Caused by an An

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

✍ Klar, Joakim; Sobol, Maria; Melberg, Atle; Mäbert, Katrin; Ameur, Adam; Johansso 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

Hearing loss associated with enlarged ve

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene

✍ Jiann-Jou Yang; Chin-Chu Tsai; Hsiu-Mei Hsu; Jiun-Yih Shiao; Ching-Chyuan Su; Sh 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 529 KB

A deep intronic mutation in FGB creates

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment

✍ Ryan L. Davis; Vivienne M. Homer; Peter M. George; Stephen O. Brennan 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB