Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

BACKGROUND: 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 be...

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Main Authors: Otto, Edgar A., Ramaswami, Gokul, Janssen, Sabine, Chaki, Moumita, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Hurd, Toby W., Ghosh, Amiya K., Wolf, Matthias T., Hoppe, Bernd, Neuhaus, Thomas J., Bockenhauer, Detlef, Milford, David V., Soliman, Neveen A., Saunier, Sophie, Johnson, Colin A., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3913043/
https://ncbi.nlm.nih.gov/pubmed/21068128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.082552
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