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NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Cover

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Revista Romana de Medicina de Laborator
Volume 24 (2016): Issue 4 (December 2016)
By: Dalila Maier,  Adrian Florea,  Mariana Cornelia Tilinca,  Ancuța Zazgyva and  Rodica Cosgarea  
Open Access
|Dec 2016

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DOI: https://doi.org/10.1515/rrlm-2016-0034 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624
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Language: English
Page range: 387 - 398
Submitted on: Jun 7, 2016
Accepted on: Sep 21, 2016
Published on: Dec 30, 2016
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
autosomal recessive congenital ichthyosis,
NIPAL4 mutation,
transglutaminase 1,
electron microscopy
Related subjects:
Life sciences,
Molecular biology,
Biochemistry,
Human biology,
Microbiology and virology

© 2016 Dalila Maier, Adrian Florea, Mariana Cornelia Tilinca, Ancuța Zazgyva, Rodica Cosgarea, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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