Enfermedad de. Lafora y efecto fundador en una pequeña localidad neotropical

 

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
লেখক: Solís, María Virginia
বিন্যাস: artículo original
বর্তমান অবস্থা:Versión publicada
প্রকাশনার তারিখ:2000
বিবরন:The Lafora disease is an uncommon genetic condition. Four cases (two families) were detected in Zarcero, a small town in Costa Rica (population under 2000). They belonged 10 two separate consanguineous marriages but both families had common ancestors. The. diagnosis ·of Lafora disease was confrrmed by liver. biopsy' in one of the patients. The ages of onset .were 13, 14, 16 and 17 years. Patients died after four, nine, six and fi ve years of severe progressive physical and mental deterioration, respectively. The gene for Lafora disease arrive to Zarcero from one of its founders. There are no other cases reported from Co.sta Rica: this is an exampie of genetic drift, or more specifically; founder effect.
দেশ:Portal de Revistas UCR
প্রতিষ্ঠান:Universidad de Costa Rica
Repositorio:Portal de Revistas UCR
ভাষা:Español
OAI Identifier:oai:archivo.portal.ucr.ac.cr:article/18879
অনলাইন ব্যবহার করুন:https://archivo.revistas.ucr.ac.cr/index.php/rbt/article/view/18879
মুখ্য শব্দ:lafora disease
myoclonic epilepsy
founder effect