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Ichthyosis lamellar 2

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Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Ichthyosis lamellar 2" returned 0 free, full-text review articles. First 0 results:
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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Ichthyosis lamellar 2" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ichthyosis lamellar 2" returned 1 free, full-text research articles. First 1 results:
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Last Updated: Nov 18, 2010

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous ...

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
Last Updated: Nov 15, 2006

Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in ...

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