Heterozygous mutation (c.6353C > G) in the ABCA12 gene (IMAGE)
Caption
(A): Pedigree of the patient's family, including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of pregnancy, two healthy brothers and sister carrying the mutation and the patient. (B): The Sanger sequencing results of the members in the patient's family. The results show that the patient's parents, an older brother, and an older sister carry a heterozygous mutation (c.6353C > G) in the ABCA12 gene. The patient bear the homozygous mutation (c.6353C > G) and the other healthy brother who was born in 2013 does not have the mutation.
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BGI Genomics
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