Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
Wissenschaftlicher Artikel
Authors
Sukalo, Maja
Schaeflein, Eva
Schanze, Ina
Everman, David B.
Rezaei, Nima
Institutions
UKU. Klinik für Innere Medizin IPublished in
Molecular Genetics and Genomic Medicine ; 5 (2017), 6. - S. 774-780. - ISSN 2324-9269