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Autor:
Julia Kopp, Peter C. van den Akker, Matthias Schmuth, Zhou Yang, Angela Hernández-Martín, Bakar Bouadjar, Anette Bygum, Katariina Hannula-Jouppi, Maria C. Bolling, Svenja Alter, Iliana Tantcheva-Poor, Emmanuelle Bourrat, Anders Vahlquist, Juliette Mazereeuw-Hautier, Andreas Zimmer, Kathrin A. Giehl, Regina C. Betz, Gianluca Tadini, Sophie Guez, Alrun Hotz, Robert Gruber, Maritta Hellström Pigg, Cristina Has, Judith Fischer, Michela Brena, Katalin Komlosi, Vinzenz Oji, Natalie Jonca, A.D. Irvine, Kira Süßmuth, Giovanna Zambruno
Publikováno v:
Genes
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been iden