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Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome Cover

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
By: R Śmigiel,  B Królak-Olejnik,  D Śniegórska,  A Rozensztrauch,  A Szafrańska,  MM Sasiadek and  K Wertheim-Tysarowska  
Open Access
|Dec 2016

Authors

R Śmigiel

robert.smigiel@umed.wroc.pl

Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland

B Królak-Olejnik

Department of Neonatology, Wroclaw Medical University, Wroclaw, Poland

D Śniegórska

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

A Rozensztrauch

Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland

A Szafrańska

Department of Neonatology, Wroclaw Medical University, Wroclaw, Poland

MM Sasiadek

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland

K Wertheim-Tysarowska

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
DOI: https://doi.org/10.1515/bjmg-2016-0040 | Journal eISSN: 2199-5761
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Language: English
Page range: 81 - 84
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Mutation,
Netherton Syndrome (NS),
SPINK5 gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 R Śmigiel, B Królak-Olejnik, D Śniegórska, A Rozensztrauch, A Szafrańska, MM Sasiadek, K Wertheim-Tysarowska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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