Laddar...
A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
PURPOSE: To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts. METHODS: Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-ca...
Sparad:
| I publikationen: | PLoS One |
|---|---|
| Huvudupphovsmän: | , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Public Library of Science
2014
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4269439/ https://ncbi.nlm.nih.gov/pubmed/25517998 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0115406 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|