Nonsensemutation相关论文
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in
Hereditary multiple osteochondromas (HMO) is an autosomal dominant bone disorder characterised by the presence of multip......
Purpose To identify the spectrum of RB1 gene mutation in Chinese retinoblastoma(RB)patients Methods A total of 38 RB pat......
Premature termination codons(PTC) diseases are a kind of diseases caused by nonsense mutation leading to premature termi......
Expanding the Genetic Code for Suppression of Premature Termination Codons to Alleviate Human Nonsen
Nonsense mutations with premature termination codons(PTCs)account for approximately 11%of reported monogenic diseases....
Tuberous sclerosis complex (TSC) is a neural skin syndrome caused by autosomal dominant disorder.TSC is characterize......
