ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
Pedigrees of three Japanese families with angioid streaks (AS). Two novel ABCC6 variants (p.H647Y and p.S1125F) are found in families 7 and 10. Families 3 and 10 exhibit a pseudodominant inheritance pattern. The identified ABCC6 variants cosegregated with the patients with AS.
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