A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2020-05-01
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| Series: | Advances in Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/almed-2020-0033 |
| _version_ | 1797795106588196864 |
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| author | Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia |
| author_facet | Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia |
| author_sort | Lahoz Alonso Raquel |
| collection | DOAJ |
| first_indexed | 2024-03-13T03:12:51Z |
| format | Article |
| id | doaj.art-5058177012044f7a833189763f4c1dcc |
| institution | Directory Open Access Journal |
| issn | 2628-491X |
| language | English |
| last_indexed | 2024-03-13T03:12:51Z |
| publishDate | 2020-05-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Advances in Laboratory Medicine |
| spelling | doaj.art-5058177012044f7a833189763f4c1dcc2023-06-26T10:46:03ZengDe GruyterAdvances in Laboratory Medicine2628-491X2020-05-01146546710.1515/almed-2020-0033A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 yearsLahoz Alonso Raquel0Sienes Bailo Paula1Capablo Liesa Jose Luis2Álvarez de Andrés Sara3Bancalero Flores Jose Luis4Izquierdo Álvarez Silvia5Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Neurology, Hospital Universitario Miguel Servet, Zaragoza, SpainNIMGenetics, Madrid, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, SpainDepartment of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spainhttps://doi.org/10.1515/almed-2020-0033charcot-marie-tooth disease, axonal, type 2wexomehars protein, human |
| spellingShingle | Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years Advances in Laboratory Medicine charcot-marie-tooth disease, axonal, type 2w exome hars protein, human |
| title | A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years |
| title_full | A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years |
| title_fullStr | A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years |
| title_full_unstemmed | A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years |
| title_short | A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years |
| title_sort | variant of the gene hars detected in the clinical exome etiology of a peripheral neuropathy undiagnosed for 20 years |
| topic | charcot-marie-tooth disease, axonal, type 2w exome hars protein, human |
| url | https://doi.org/10.1515/almed-2020-0033 |
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