Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
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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]
National Genomics Infrastructure [Collaborative]
PLA and Single Cell Proteomics [Service]
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PubMed 28158657
DOI 10.1093/hmg/ddx017
Crossref 10.1093/hmg/ddx017