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Paper Details

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J Med Genet
22
2017
A, C, HGPS, Hutchinson-Gilford progeria syndrome, LMNA gene, at 1968+2, autosomal dominant premature ageing disease, blood DNA, c, c.1968, c.1968+, cell populations, child, cryptic splice site, cultured fibroblasts, exon 11, germline, proband, progerin
Author NameAffiliation
Peter ChinesNational Human Genome Research Institute, National Institutes of Health
Stephen P JacksonThe Gurdon Institute, University of Cambridge
Stephen P JacksonThe Gurdon Institute, University of Cambridge
Francis S CollinsNational Human Genome Research Institute, National Institutes of Health
Francis S CollinsNational Human Genome Research Institute, National Institutes of Health
Thomas W GloverUniversity of Michigan ann arbor
Thomas W GloverUniversity of Michigan ann arbor
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