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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. [electronic resource] by
- Dikoglu, Esra
- Alfaiz, Ali
- Gorna, Maria
- Bertola, Deborah
- Chae, Jong Hee
- Cho, Tae-Joon
- Derbent, Murat
- Alanay, Yasemin
- Guran, Tulay
- Kim, Ok-Hwa
- Llerenar, Juan C
- Yamamoto, Guillerme
- Superti-Furga, Giulio
- Reymond, Alexandre
- Xenarios, Ioannis
- Stevenson, Brian
- Campos-Xavier, Belinda
- Bonafé, Luisa
- Superti-Furga, Andrea
- Unger, Sheila
Producer: 20160317
In:
American journal of medical genetics. Part A vol. 167
Availability: No items available.
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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. [electronic resource] by
- 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
Producer: 20150314
In:
American journal of human genetics vol. 96
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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. [electronic resource] by
- Inui, Takehiko
- Anzai, Mai
- Takezawa, Yusuke
- Endo, Wakaba
- Kakisaka, Yosuke
- Kikuchi, Atsuo
- Onuma, Akira
- Kure, Shigeo
- Nishino, Ichizo
- Ohba, Chihiro
- Saitsu, Hirotomo
- Matsumoto, Naomichi
- Haginoya, Kazuhiro
Producer: 20180118
In:
Journal of human genetics vol. 62
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