Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-...

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Bibliographic Details
Main Authors:	Siegel, D, Ashton, G, Penagos, H, Lee, J, Feiler, H, Wilhelmsen, K, South, A, Smith, F, Prescott, A, Wessagowit, V, Oyama, N, Akiyama, M, Al Aboud, D, Al Aboud, K, Al Githami, A, Al Hawsawi, K, Al Ismaily, A, Al-Suwaid, R, Atherton, D, Caputo, R, Fine, J, Frieden, I, Fuchs, E, Haber, R, Harada, T
Format:	Journal article
Language:	English
Published:	2003

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

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