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Title

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Authors
Otto, Edgar A
Ramaswami, Gokul
Janssen, Sabine
Chaki, Moumita
Allen, Susan J
Zhou, Weibin
Airik, Rannar
Hurd, Toby W
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CollaborationWith : Kern, Ilse
Published in Journal of Medical Genetics. 2011, vol. 48, no. 2, p. 105-16
Abstract Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised.
Keywords Cilia/genetics/pathologyDNA Mutational Analysis/methodsHeteroduplex Analysis/methodsHumansKidney Diseases, Cystic/geneticsNucleic Acid Amplification TechniquesPolymerase Chain Reaction
Identifiers
PMID: 21068128
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Research group Gastroentérologie et transplantation (pédiatrie) (181)
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OTTO, Edgar A et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. In: Journal of Medical Genetics, 2011, vol. 48, n° 2, p. 105-16. https://archive-ouverte.unige.ch/unige:25187

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Deposited on : 2013-01-09

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