The genetic profile of Leber congenital amaurosis in an Australian cohort

BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic het...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Thompson, Jennifer A., De Roach, John N., McLaren, Terri L., Montgomery, Hannah E., Hoffmann, Ling H., Campbell, Isabella R., Chen, Fred K., Mackey, David A., Lamey, Tina M.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702575/
https://ncbi.nlm.nih.gov/pubmed/29178642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.321
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