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Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions |
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Titel: |
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions |
Auteur: |
Guo, Le Govindaraj, Periyasamy Kievit, Mariƫlle de Coo, Irenaeus F.M. Gerards, Mike Hellebrekers, Debby M.E.I. Stassen, Alphons P.M. Gayathri, Narayanappa Taly, Arun B Sankaran, Bindu Parayil Smeets, Hubert J.M. |
Verschenen in: |
Neuromuscular disorders |
Paginering: |
Jaargang 31 () nr. 9 pagina's 859-864 |
Jaar: |
2021 |
Inhoud: |
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Uitgever: |
The Authors |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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