New pathogenic mutation of chorea-acanthocytosis.
Sign Up to like & getrecommendations! Published in 2018 at "Neurologia"
DOI: 10.1016/j.nrl.2018.03.012
Abstract: Chorea-acanthocytosis (ChA) is an autosomal recessive disease caused by a mutation in the VPS13A gene, located on chromosome 9q21 and coding for the protein chorein. Chorein is a protein of 3000 amino acids, involved in… read more here.
Keywords: pathogenic mutation; chorea acanthocytosis; acanthocytosis; new pathogenic ... See more keywords
Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-241886
Abstract: A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and… read more here.
Keywords: pathogenic mutation; case; carney complex; novel pathogenic ... See more keywords
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2018.9530
Abstract: Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic… read more here.
Keywords: exome sequencing; pathogenic mutation; whole exome; gene ... See more keywords