Llwytho...
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus
Congenital nystagmus (CN) is an ocular movement disorder manifested as involuntary conjugated binocular oscillation and usually occurs in early infancy. The pathological mechanism underlying CN is still poorly understood. We mapped a novel genetic locus 9q33.1-q34.2 in a larger Chinese family with a...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Front Cell Dev Biol |
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| Prif Awduron: | , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Frontiers Media S.A.
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7672047/ https://ncbi.nlm.nih.gov/pubmed/33251218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2020.591781 |
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