Browsing Ergoterapi Bölümü Makale Koleksiyonu by Publisher "Univ Chicago Press"

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Loss of Kindlin-1, a Human Homolog of the Caenorhabditis Elegans Actin-Extracellular-Matrix Linker Protein Unc-112, Causes Kindler Syndrome

Siegel, Dawn H.; Ashton, Gabrielle H. S.; Penagos, Homero; Şahin, Sedef (Univ Chicago Press, 2003)

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 ...