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

Erstveröffentlichung

2017

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Wissenschaftlicher Artikel

Authors

Sukalo, Maja

Schaeflein, Eva

Schanze, Ina

Everman, David B.

Rezaei, Nima

et al.

Institutions

UKU. Klinik für Innere Medizin I

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

Funding information

Fritz Thyssen Stiftung [AZ 10.15.2.040MN]

Keywords

autosomal recessive; Johanson-Blizzard syndrome; MLPA; multiplex ligation-dependent probe amplification; UBR1

Dewey Decimal Group

DDC 610 / Medicine & health

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