Associated Papers
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
MacLaren RE et al.
Lancet (london, England), 2014
24439297 (PubMed )
Supplement: mmc1.pdf
A clinical molecular genetic service for United Kingdom families with choroideraemia.
Ramsden SC et al.
European Journal of Medical Genetics, 2013
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