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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
Keywords
autosomal recessive; Johanson-Blizzard syndrome; MLPA; multiplex ligation-dependent probe amplification; UBR1
Dewey Decimal Group
DDC 610 / Medicine & health

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