A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

Autor: Nikopoulos K, Gu, Butt, Farinelli P, Mudassar M, Domènech-Estévez E, Samara C, Kausar M, Masroor I, Roman Chrast, Rivolta C, Siddiqi S
Rok vydání: 2015
Zdroj: Europe PubMed Central
ISSN: 1399-0004
Databáze: OpenAIRE