CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA(+) Lon Protease

CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with C...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Strauss, Kevin A., Jinks, Robert N., Puffenberger, Erik G., Venkatesh, Sundararajan, Singh, Kamalendra, Cheng, Iteen, Mikita, Natalie, Thilagavathi, Jayapalraja, Lee, Jae, Sarafianos, Stefan, Benkert, Abigail, Koehler, Alanna, Zhu, Anni, Trovillion, Victoria, McGlincy, Madeleine, Morlet, Thierry, Deardorff, Matthew, Innes, A. Micheil, Prasad, Chitra, Chudley, Albert E., Lee, Irene Nga Wing, Suzuki, Carolyn K.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289676/
https://ncbi.nlm.nih.gov/pubmed/25574826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.003
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