A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Efficient CNS targeting in adult mice by intrathecal infusion of single-stranded AAV9-GFP for gene therapy of neurological disorders

(2017) K Bey et al.   GENE THERAPY

In Vivo Selection Yields AAV-B1 Capsid for Central Nervous System and Muscle Gene Therapy

(2016) Sourav R Choudhury et al.   MOLECULAR THERAPY

Visual Acuity after Retinal Gene Therapy for Choroideremia

(2016) Thomas L. Edwards et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy and Stem Cell Transplantation in Retinal Disease: The New Frontier

(2016) Robert E. MacLaren et al.   OPHTHALMOLOGY

Iron Toxicity in the Retina Requires Alu RNA and the NLRP3 Inflammasome

(2015) Bradley D. Gelfand et al.   Cell Reports

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene

(2014) Aziz Shaibani et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity

(2012) Izumi Yanatori et al.   BLOOD CELLS MOLECULES AND DISEASES

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

(2011) Hiroyuki Ishiura et al.   NEUROGENETICS

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

(2010) Anjali M. Rajadhyaksha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A Heme Export Protein Is Required for Red Blood Cell Differentiation and Iron Homeostasis

(2008) S. B. Keel et al.   SCIENCE