@phdthesis{oai:nagoya.repo.nii.ac.jp:00022226,
 author = {Shibata, Akitaka and 柴田, 章貴},
 month = {Mar},
 school = {名古屋大学, Nagoya University},
 title = {Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall},
 year = {2016}
}