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

Sukalo, Maja; Schaeflein, Eva; Schanze, Ina; Everman, David B.; Rezaei, Nima; Argente, Jesus; Lorda-Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin

Erstveröffentlichung

2017

Authors

Sukalo, Maja

Schaeflein, Eva

Schanze, Ina

Everman, David B.

Rezaei, Nima

et al.

Wissenschaftlicher Artikel

Published in

Molecular Genetics and Genomic Medicine ; 5 (2017), 6. - S. 774-780. - ISSN 2324-9269

Link to publication

https://dx.doi.org/10.1002/mgg3.319

Institutions

UKU. Klinik für Innere Medizin I

Subject headings

[Free subject headings]: autosomal recessive | Johanson-Blizzard syndrome | MLPA | multiplex ligation-dependent probe amplification | UBR1
[DDC subject group]: DDC 610 / Medicine & health

Metadata

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