Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis

Human Mutation

Volumn 26, Issue 4, 2005, Pages 351-361

  Eckl, Katja Martina ^a,b,c   Krieg, Peter ^d   Küster, Wolfgang ^e   Traupe, Heiko ^f   André, Françoise ^c   Wittstruck, Nadine ^c   Fürstenberger, Gerhard ^d   Hennies, Hans Christian ^a,c  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^e TOMESA Clinic   (Germany)

^f UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

ALOX12B; ALOXE3; Congenital ichthyosis; Epidermal differentiation; Genodermatosis; Genotype phenotype correlation; Hepoxilin; Lipoxygenase

Indexed keywords

8 HYDROXY 11,12 EPOXYEICOSATRIENOIC ACID; EPOXIDE; EPOXY ALCOHOL; GENE PRODUCT; LIPOXYGENASE; PROTEIN ALOX12B; PROTEIN ALOXE3; UNCLASSIFIED DRUG;

ALOX12B GENE; ALOXE3 GENE; ARTICLE; AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 17P; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; ERYTHEMA; FRANCE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; ICHTHYOSIS; KERATINIZATION; MISSENSE MUTATION; MOLECULAR BIOLOGY; NONSENSE MUTATION; NORTH AFRICA; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; TURKEY (REPUBLIC);

ARACHIDONATE 12-LIPOXYGENASE; CATALYSIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EPIDERMIS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPOXYGENASE; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; PHENOTYPE; POINT MUTATION; POPULATION GROUPS; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS;

EID: 25444467735     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20236     Document Type: Article

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