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Osteosclerosis (oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in affected mice. Genetic mapping of the oc mutation was used as a backbone in a positional cloning approach in the pericentromeric region of mouse chromosome 19. Perfect cosegregation of the osteopetrotic phenotype with polymorphic markers enabled...
Dermatofibrosarcoma protuberans (DP) is an uncommon low grade, slow growing and locally aggressive tumor of the deep dermis. Although authentic DP may also, but seldomly, occurs in children, a distinct entity, giant cell fibroblastoma (GCF), has been considered as a juvenile form of DP.DP presents specific chromosomal abnormalities such as reciprocal translocations t(17;22)(q22;q13) and supernumerary...
K+channels are essential for a variety of cellular functions in both excitable and nonexcitable cells, and K+channel gene alteration has been recently described in cardiac and neurological disorders. To explore further the relations between hereditary human diseases and K+channels, we isolated from a human cosmid library the gene encoding the inwardly rectifying K+channel α-subunit Kir 2.2 (KCNJ12)...
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