Angelman Syndrome: Proteomics Analysis of an UBE3A Knockout Mouse and Its Implications

Autor:	Ken-Shiung Chen, Tew Wai Loon, Low Hai Loon, Hew Choy Sin, Chi-Chen Kevin Chen, Chi-Fung Jennifer Chen
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	congenital hereditary and neonatal diseases and abnormalities Movement disorders Ataxia business.industry Genetic disorder medicine.disease Bioinformatics Severe epilepsy Proteomics Angelman syndrome Knockout mouse medicine UBE3A medicine.symptom business
Zdroj:	Advanced Topics in Neurological Disorders
Popis:	Angelman syndrome (AS) is a genetic disorder with an incidence of 1 in 15,000, and it was first described in 1965 by Harry Angelman (1,2). It is characterized by a severe developmental delay together with mental disorders, movement disorders and behavioral abnormalities. Early severe epilepsy, sleep alteration, ataxia, important gait, absence of language and craniofacial dysmorphism are phenotypic characteristics used as diagnostic criteria of AS (3).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb67fcad8080f3557cf7aa6a1819d80 http://www.intechopen.com/articles/show/title/angelman-syndrome-proteomics-analysis-of-an-ube3a-knockout-mouse-and-its-implications Zobrazit plný text záznamu