TY - GEN AU - Audo,I AU - El Shamieh,S AU - Méjécase,C AU - Michiels,C AU - Demontant,V AU - Antonio,A AU - Condroyer,C AU - Boyard,F AU - Letexier,M AU - Saraiva,J-P AU - Blanchard,S AU - Mohand-Saïd,S AU - Sahel,J-A AU - Zeitz,C TI - ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant SN - 1399-0004 PY - 2018///0316 KW - Carrier Proteins KW - genetics KW - Cohort Studies KW - Female KW - Humans KW - Male KW - Mutation KW - Pedigree KW - Protein Isoforms KW - RNA Splicing KW - Retinitis Pigmentosa KW - Transcription Factors KW - Exome Sequencing N1 - Publication Type: Letter UR - https://doi.org/10.1111/cge.12909 ER -