Publication | Open Access

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Homozygosity MappingGenetic DisorderWhole-exome SequencingGeneticsMedicineHematologyPathologyDetect Slc45a2Molecular GeneticsDisease Gene IdentificationGenomicsMolecular Diagnostics