Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5585371 | Bone | 2017 | 9 Pages |
Abstract
These data reaffirm that in clear cut clinical cases, where conventional sequencing including the coding sequence and direct exon-intron-boundaries fails to detect mutations, deeper analyses of regulatory important motifs like branch-point sequences are required to establish a genetic diagnosis.
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Authors
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann,