Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
JSON
Publications
Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML
Hum Mol Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-01]
Bioinformatics Compute and Storage [Service]
Clinical Genomics Uppsala [Collaborative]
NGI Uppsala (Uppsala Genome Center) [Collaborative]
PLA and Single Cell Proteomics [Service]
QC bibliography QC xrefs
PubMed 28158657
DOI 10.1093/hmg/ddx017
Crossref 10.1093/hmg/ddx017