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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書誌詳細
出版年:Am J Hum Genet
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2015
主題:
Article
オンライン･アクセス: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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