Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (Q21144939)
scientific article
- Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
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| English | Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases |
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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (English)
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Anthony Sandler
Anthony
Sandler
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Elena I Rugarli
Elena I
Rugarli
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Craig
Blackstone
Craig Blackstone
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Tyler Mark Pierson
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David Adams
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Florian Bonn
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Paola Martinelli
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Praveen F Cherukuri
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Jamie K Teer
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Nancy F Hansen
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Pedro Cruz
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James C Mullikin For The Nisc Comparative Sequencing Program
James C
Mullikin For The Nisc Comparative Sequencing Program
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Robert W Blakesley
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Gretchen Golas
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Justin Kwan
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Karin Fuentes Fajardo
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Thomas Markello
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Cynthia Tifft
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Thomas Langer
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William A Gahl
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Camilo Toro
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October 2011
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e1002325
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13 October 2011
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