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 |
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Rok vydání: | 2015 |
Zdroj: | Europe PubMed Central |
ISSN: | 1399-0004 |
Databáze: | OpenAIRE |
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