Journal articles
Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome
Abstract : The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™ detects GNAS mutations in 7/12 (58.3%) FD/MAS-suspected patients from whole blood DNA, and in 4/5 patients (80%) from circulating cell-free DNA.
Cited literature [4 references]
https://hal-amu.archives-ouvertes.fr/hal-01975613
Contributor : Pauline Romanet Connect in order to contact the contributor
Submitted on : Wednesday, January 9, 2019 - 2:36:08 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:21 PM
Contributor : Pauline Romanet Connect in order to contact the contributor
Submitted on : Wednesday, January 9, 2019 - 2:36:08 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:21 PM
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ROMANET J PEDS 2018.pdf
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Distributed under a Creative Commons Attribution 4.0 International License