Zhirong Liu Shanying Mao Jiali Pu Yao Ding Baorong Zhang Meiping Ding
Mol Vis
2013 Aug 6;19:1834-40.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23946638/
Asian People / genetics Cytoskeletal Proteins / genetics Genetic Diseases, X-Linked / genetics Membrane Proteins / genetics Mutation, Missense / genetics Nystagmus, Congenital / genetics
Asian People / genetics Cytoskeletal Proteins / genetics Genetic Diseases, X-Linked / genetics Membrane Proteins / genetics Mutation, Missense / genetics Nystagmus, Congenital / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Aged Base Sequence Child China DNA Mutational Analysis Family Female HEK293 Cells Humans Infant Male Molecular Sequence Data Pedigree Protein Structure, Tertiary Signal Transduction Young Adult rac1 GTP-Binding Protein / metabolism Cytoskeletal Proteins FRMD7 protein, human Membrane Proteins rac1 GTP-Binding Protein
PMC3742126
23946638
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family
2013