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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

Open Access
|Dec 2016

Full Article

List of abbreviations

ARCI

= autosomal recessive congenital ichthyosis

CIE

= congenital erythroderma

FATP4

= fatty acid transporter protein

HE

= hematoxylin and eosin

LI

= lamellar ichthyosis

TGase1

= transglutaminase 1

DOI: https://doi.org/10.1515/rrlm-2016-0034 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624 (formerly 2284-5623)
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

© 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.