title: A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
abstract: Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ling
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Jiachao
authors.initials: J
authors.lastname: Chen
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Xu
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Leng
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Taizhou People's Hospital of Jiangsu Province Taizhou, China.
authors.forename: Min
authors.initials: M
authors.lastname: Chen
authors.affiliation: Zhongshan Hospital Fudan University Shanghai, China.
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Lu
keywords: CSB gene; Cockayne syndrome; mutation