Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall

Akitaka Shibata, Kazumitsu Sugiura, Atsushi Suzuki, Takashi Ichiki, Masashi Akiyama

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology