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A new estimate of the achondroplasia mutation rate

R. J. M. Gardner

Open publisher page 43 citations

Abstract

An estimate is derived of the mutation of achondroplasia based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 x 10(-5) +/- standard error 0.5 x 10(-5). Certain shortcomings of this estimate are discussed.

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What this paper is about

An estimate is derived of the mutation of achondroplasia based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 x 10(-5) +/- standard error 0.5 x 10(-5). Certain shortcomings of this estimate are discussed.

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Available abstract

An estimate is derived of the mutation of achondroplasia based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 x 10(-5) +/- standard error 0.5 x 10(-5). Certain shortcomings of this estimate are discussed.

Key concepts: Achondroplasia, Mutation, Mutation rate, Allele, Pediatrics, Medicine, Genetics, Biology

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