P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013810 |
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| _version_ | 1850178288340697088 |
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| author | Farrah Jackson Jaime Lopes Sarah Taylor Laurelle Kinga-Bakienga Anne Slavotinek Kristin Theobald |
| author_facet | Farrah Jackson Jaime Lopes Sarah Taylor Laurelle Kinga-Bakienga Anne Slavotinek Kristin Theobald |
| author_sort | Farrah Jackson |
| collection | DOAJ |
| format | Article |
| id | doaj-art-b36c1f75bbee4bc8869b356a086d82f4 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-b36c1f75bbee4bc8869b356a086d82f42025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310334210.1016/j.gimo.2025.103342P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegiaFarrah Jackson0Jaime Lopes1Sarah Taylor2Laurelle Kinga-Bakienga3Anne Slavotinek4Kristin Theobald5Cincinnati Children's Hospital Medical CenterCincinnati Children's Hospital Medical CenterCincinnati Children's Hospital Medical CenterCincinnati Children's Hospital Medical CenterCincinnati Children's Hospital Medical CenterCincinnati Children's Hospital Medical Centerhttp://www.sciencedirect.com/science/article/pii/S2949774425013810 |
| spellingShingle | Farrah Jackson Jaime Lopes Sarah Taylor Laurelle Kinga-Bakienga Anne Slavotinek Kristin Theobald P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia Genetics in Medicine Open |
| title | P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia |
| title_full | P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia |
| title_fullStr | P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia |
| title_full_unstemmed | P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia |
| title_short | P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia |
| title_sort | p475 genome sequencing reveals a novel homozygous in frame deletion c 367 375del in cyp2u1 in twin sisters with early onset spastic paraplegia |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425013810 |
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