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  2. Details for: The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. [electronic resource]

By:
  • Martín, M Á
Contributor(s):
  • García-Silva, M T
  • Barcia, G
  • Delmiro, A
  • Rodríguez-García, M E
  • Blázquez, A
  • Francisco-Álvarez, R
  • Martín-Hernández, E
  • Quijada-Fraile, P
  • Tejada-Palacios, P
  • Arenas, J
  • Santos, C
  • Martínez-Azorín, F
Producer: 20170613Description: 46-53 p. digitalISSN:
  • 1399-0004
Subject(s):
  • Abnormalities, Multiple -- genetics
  • Acidosis, Lactic
  • Adolescent
  • Amino Acid Sequence
  • Brain Diseases
  • Cardiomyopathies
  • Carrier Proteins -- genetics
  • Exome -- genetics
  • Family Health
  • Female
  • Genetic Predisposition to Disease -- genetics
  • Homozygote
  • Humans
  • Male
  • Mitochondrial Diseases
  • Mutation, Missense
  • Optic Nerve Diseases
  • Pedigree
  • Polymorphism, Single Nucleotide
  • RNA-Binding Proteins
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Syndrome
  • Young Adult
Online resources:
  • Available from publisher's website
In: Clinical genetics vol. 91
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Publication Type: Case Reports; Journal Article

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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

APA

Martín M. Á., García-Silva M. T., Barcia G., Delmiro A., Rodríguez-García M. E., Blázquez A., Francisco-Álvarez R., Martín-Hernández E., Quijada-Fraile P., Tejada-Palacios P., Arenas J., Santos C. & Martínez-Azorín F. (20170613). The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. : Clinical genetics.

Chicago

Martín M Á, García-Silva M T, Barcia G, Delmiro A, Rodríguez-García M E, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C and Martínez-Azorín F. 20170613. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. : Clinical genetics.

Harvard

Martín M. Á., García-Silva M. T., Barcia G., Delmiro A., Rodríguez-García M. E., Blázquez A., Francisco-Álvarez R., Martín-Hernández E., Quijada-Fraile P., Tejada-Palacios P., Arenas J., Santos C. and Martínez-Azorín F. (20170613). The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. : Clinical genetics.

MLA

Martín M Á, García-Silva M T, Barcia G, Delmiro A, Rodríguez-García M E, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C and Martínez-Azorín F. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. : Clinical genetics. 20170613.

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