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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Fig. 2

Mutations of the ADAR1 gene found in patients with dyschromatosis symmetrica hereditaria. a. c.1078C>T (p.R360X) mutation in family 4. b. c.1420C>T (p.R474X) mutation in family 6. c. c.2303G>A (p.W768X) mutation in Sporadic 1. d.c.3248G>A (p.R1083H) mutation in family 7. e.c.3089_3090delGA (p.R1030DfsX1036) mutation in family 1. f. c.2408delG (p.G803VfsX807) mutation in family 3. g. c.3439ins17 (p.D1147VfsX1184) mutation in family 5. h. a nonstop mutation TGA(Stop) CGA(Arg)=Stop1227R in family 2

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