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Journals
Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
Open Access
Is c.1431-12G>A A common European mutation of
SPINK5?
report of a patient with Netherton Syndrome
R Śmigiel
R Śmigiel
,
B Królak-Olejnik
B Królak-Olejnik
,
D Śniegórska
D Śniegórska
,
A Rozensztrauch
A Rozensztrauch
,
A Szafrańska
A Szafrańska
,
MM Sasiadek
MM Sasiadek
and
K Wertheim-Tysarowska
K Wertheim-Tysarowska
| Dec 31, 2016
Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
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Article Category:
Case Report
Published Online:
Dec 31, 2016
Page range:
81 - 84
DOI:
https://doi.org/10.1515/bjmg-2016-0040
Keywords
Mutation
,
Netherton Syndrome (NS)
,
gene
© 2016 Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.