[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria].
Copyright policy )[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria].
To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls.A missense mutation of c.3463C>T, which results in p.R1155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals.A missense mutation of c.3463C>T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.
- Wuxi Fourth People's Hospital China (People's Republic of)
Male, Base Sequence, Genotype, Adenosine Deaminase, Molecular Sequence Data, Mutation, Missense, RNA-Binding Proteins, Pedigree, Young Adult, Child, Preschool, Mutation, Humans, Point Mutation, Female, Amino Acid Sequence, Child, Pigmentation Disorders
Male, Base Sequence, Genotype, Adenosine Deaminase, Molecular Sequence Data, Mutation, Missense, RNA-Binding Proteins, Pedigree, Young Adult, Child, Preschool, Mutation, Humans, Point Mutation, Female, Amino Acid Sequence, Child, Pigmentation Disorders
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!