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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
OBJECTIVE: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associa...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Ann Clin Transl Neurol |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7318087/ https://ncbi.nlm.nih.gov/pubmed/32519519 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51074 |
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