A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.

Li, Qian

A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. [electronic resource] - Chinese medical journal 2014 - 4190-6 p. digital

Publication Type: Case Reports; Journal Article

2542-5641


Bardet-Biedl Syndrome--genetics
Child, Preschool
Codon, Nonsense--genetics
Female
Humans
Microtubule-Associated Proteins
Proteins--genetics