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  2. Details for: Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. [electronic resource]

By:
  • Dikoglu, Esra
Contributor(s):
  • 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: 20160317Description: 1501-9 p. digitalISSN:
  • 1552-4833
Subject(s):
  • ATP-Dependent Proteases -- genetics
  • Base Sequence
  • Craniofacial Abnormalities -- genetics
  • Exome -- genetics
  • Eye Abnormalities -- genetics
  • Genes, Recessive -- genetics
  • Growth Disorders -- genetics
  • Hip Dislocation, Congenital -- genetics
  • Humans
  • Mitochondrial Proteins -- genetics
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation -- genetics
  • Osteochondrodysplasias -- genetics
  • Sequence Analysis, DNA
  • Switzerland
  • Tooth Abnormalities -- genetics
Online resources:
  • Available from publisher's website
In: American journal of medical genetics. Part A vol. 167
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

APA

Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J. H., Cho T., Derbent M., Alanay Y., Guran T., Kim O., Llerenar J. C., Yamamoto G., Superti-Furga G., Reymond A., Xenarios I., Stevenson B., Campos-Xavier B., Bonafé L., Superti-Furga A. & Unger S. (20160317). Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. : American journal of medical genetics. Part A.

Chicago

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 and Unger Sheila. 20160317. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. : American journal of medical genetics. Part A.

Harvard

Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J. H., Cho T., Derbent M., Alanay Y., Guran T., Kim O., Llerenar J. C., Yamamoto G., Superti-Furga G., Reymond A., Xenarios I., Stevenson B., Campos-Xavier B., Bonafé L., Superti-Furga A. and Unger S. (20160317). Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. : American journal of medical genetics. Part A.

MLA

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 and Unger Sheila. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. : American journal of medical genetics. Part A. 20160317.

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