مکتبة رقمیه للعلوم الطبيه
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  2. Details for: A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. [electronic resource]

By:
  • Inui, Takehiko
Contributor(s):
  • 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: 20180118Description: 653-655 p. digitalISSN:
  • 1435-232X
Subject(s):
  • ATP-Dependent Proteases -- genetics
  • Child
  • Craniofacial Abnormalities -- genetics
  • Exome -- genetics
  • Eye Abnormalities -- genetics
  • Frameshift Mutation -- genetics
  • Genetic Predisposition to Disease
  • Growth Disorders -- genetics
  • Hip Dislocation, Congenital -- genetics
  • Humans
  • Intellectual Disability -- genetics
  • Male
  • Mitochondrial Proteins -- genetics
  • Osteochondrodysplasias -- genetics
  • Protein Domains -- genetics
  • Spinocerebellar Degenerations -- genetics
  • Tooth Abnormalities -- genetics
Online resources:
  • Available from publisher's website
In: Journal of human genetics vol. 62
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Publication Type: Case Reports; Journal Article

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

APA

Inui T., Anzai M., Takezawa Y., Endo W., Kakisaka Y., Kikuchi A., Onuma A., Kure S., Nishino I., Ohba C., Saitsu H., Matsumoto N. & Haginoya K. (20180118). A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. : Journal of human genetics.

Chicago

Inui Takehiko, Anzai Mai, Takezawa Yusuke, Endo Wakaba, Kakisaka Yosuke, Kikuchi Atsuo, Onuma Akira, Kure Shigeo, Nishino Ichizo, Ohba Chihiro, Saitsu Hirotomo, Matsumoto Naomichi and Haginoya Kazuhiro. 20180118. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. : Journal of human genetics.

Harvard

Inui T., Anzai M., Takezawa Y., Endo W., Kakisaka Y., Kikuchi A., Onuma A., Kure S., Nishino I., Ohba C., Saitsu H., Matsumoto N. and Haginoya K. (20180118). A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. : Journal of human genetics.

MLA

Inui Takehiko, Anzai Mai, Takezawa Yusuke, Endo Wakaba, Kakisaka Yosuke, Kikuchi Atsuo, Onuma Akira, Kure Shigeo, Nishino Ichizo, Ohba Chihiro, Saitsu Hirotomo, Matsumoto Naomichi and Haginoya Kazuhiro. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. : Journal of human genetics. 20180118.

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