Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
Mutations in the gene CHN1 have been described in autosomal dominant Duane’s retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocu...
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| Main Authors: | , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
10 June 2010
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| In: |
Graefe's archive for clinical and experimental ophthalmology
Year: 2010, Volume: 248, Issue: 9, Pages: 1351-1357 |
| ISSN: | 1435-702X |
| DOI: | 10.1007/s00417-010-1417-7 |
| Online Access: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00417-010-1417-7 Verlag, lizenzpflichtig, Volltext: https://link.springer.com/article/10.1007/s00417-010-1417-7 
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| Author Notes: | Alexander E. Volk, Julia Fricke, Judith Strobl, Gerold Kolling, Christian Kubisch, Antje Neugebauer |
| Summary: | Mutations in the gene CHN1 have been described in autosomal dominant Duane’s retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders. |
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| Item Description: | Gesehen am 12.09.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1435-702X |
| DOI: | 10.1007/s00417-010-1417-7 |