Kristina Røkenes Karlsen

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Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1, FREM2, and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorder. Fras1, Frem1, and Frem2 form the extracellular Fraser(More)
AMACO is a basement membrane associated protein that belongs to the VWA domain-containing protein superfamily. In addition to three VWA domains it contains two EGF-like domains, a cysteine-rich domain and a unique domain. Mouse AMACO has been partially characterized, but its function remains unknown. The zebrafish genome contains a single AMACO ortholog(More)
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