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Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome
(Cell Press, 2001)
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We ...
Lipoxygenase-3 (Aloxe3) and 12(R)-Lipoxygenase (Alox12B) Are Mutated in Non-Bullous Congenital Ichthyosiform Erythroderma (Ncie) Linked to Chromosome 17P13.1
(Oxford Univ Press, 2002)
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis ...
Two New Loci For Autosomal Recessive Ichthyosis On Chromosomes 3P21 And 19P12-Q12 And Evidence For Further Genetic Heterogeneity
(Univ Chicago Press, 2000)
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ...
Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis
(Oxford Univ Press, 2004)
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ...
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...