Skip to Main Content

Paper Details

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
Bonekey Rep
20
2013
COL1A1, COL1A2, CREST, FBN1, MFS, Marfan syndrome, Mendelian disorders, OI, Osteogenesis imperfecta, SNPs, Single nucleotide, UTR5/, exon 1 deletion, genes, genomic DNA, multiplexed samples, non-synonymous SNPs, osteogenesis imperfecta, participants, patients
Author NameAffiliation
Kim M SummersThe Roslin Institute and R(D)SVS, University of Edinburgh
Andreas ZanklThe University of Queensland, UQ Centre for Clinical Research , Australia Sydney Medical School, University of Sydney , The Children's Hospital at Westmead
Matthew A BrownThe University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital
  • 1 - 3

Datasets

Release 1.2