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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.
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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
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