𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

✍ Scribed by Miguel Angel Pujana; Jordi Corral; Mònica Gratacòs; Onofre Combarros; José Berciano; David Genís; Isabel Banchs; Xavier Estivill; Víctor Volpini; The Ataxia Study Group

Publisher
Springer
Year
1999
Tongue
English
Weight
185 KB
Volume
104
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frequency analysis and clinical characte
Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
✍ Nataša T. Dragašević; Biljana Čuljković; Christine Klein; Aleksandar Ristić; Mil 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB

## Abstract The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Ser

Mutation analysis of the adenomatous pol
Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer
✍ Clara Ruiz-Ponte; Ana Vega; Angel Carracedo; Francisco Barros 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T