Seung Jun Lee Jong Hee Chae Jung Ae Lee Sung Im Cho Soo Hyun Seo Hyunwoong Park Moon-Woo Seong Sung Sup Park
10.3343/alm.2015.35.1.141
Ann Lab Med
2015 Jan;35(1):141-5.
charge syndrome chd7 large deletion non-homologous end joining
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/25553296/
CHARGE Syndrome / genetics DNA End-Joining Repair DNA Helicases / genetics DNA-Binding Proteins / genetics Sequence Deletion
CHARGE Syndrome / genetics DNA End-Joining Repair DNA Helicases / genetics DNA-Binding Proteins / genetics Sequence Deletion Case Reports Alu Elements / genetics Base Sequence CHARGE Syndrome / diagnosis DNA / chemistry DNA / metabolism DNA Helicases / metabolism DNA-Binding Proteins / metabolism Exons Gene Dosage Heterozygote Humans Infant Male Multiplex Polymerase Chain Reaction Mutation Sequence Analysis, DNA DNA-Binding Proteins DNA DNA Helicases CHD7 protein, human
PMC4272946
25553296
Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome
2015