Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (Q21144939)

From Wikidata
Jump to navigation Jump to search
scientific article
  • Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
edit
Language Label Description Also known as
English
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
scientific article
  • Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Statements

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (English)
0 references
Tyler Mark Pierson
Paola Martinelli
Praveen F Cherukuri
Nancy F Hansen
James C Mullikin For The Nisc Comparative Sequencing Program
Mullikin For The Nisc Comparative Sequencing Program
Robert W Blakesley
Gretchen Golas
Karin Fuentes Fajardo
Thomas Markello
William A Gahl
October 2011
0 references
7
0 references
10
0 references
e1002325
0 references

Identifiers

 
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit
                  edit