Journal article
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
- Nikopoulos K Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Butt GU Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
- Farinelli P Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Mudassar M Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
- Domènech-Estévez E Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Samara C Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Kausar M Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
- Masroor I Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
- Chrast R Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Rivolta C Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
- Siddiqi S Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
- 2015-08-20
Published in:
- Clinical genetics. - 2016
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1111/cge.12645
- PMID 26285675
- Persistent URL
- https://sonar.ch/global/documents/293991
Statistics
Document views: 21
File downloads: