Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B

Autor: Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC

Publikováno v: JOURNAL OF INVESTIGATIVE DERMATOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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In recent years several new genes for autosomal recessive congenital ichthyosis (ARCI) have been identified. However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of sever

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https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3979

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Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.

Autor: de Juanes S; Genome Modifications and Carcinogenesis, German Cancer Research Center, Heidelberg, Germany., Epp N, Latzko S, Neumann M, Fürstenberger G, Hausser I, Stark HJ, Krieg P

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2009 Jun; Vol. 129 (6), pp. 1429-36. Date of Electronic Publication: 2009 Jan 01.