Publication | Open Access

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Mendelian DisorderGenetic DisorderExome SequencingGeneticsRetinitis PigmentosaGenomic MechanismGene CharacterizationMolecular GeneticsDisease Gene IdentificationCell BiologyGene EncodingGene ExpressionMedicineFunctional Genomics