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An individual who has a recessive, disease-causing gene mutation at a particular locus on one chromosome of a pair and a normal allele at that locus on the other chromosome; may also refer to an individual with a balanced chromosome rearrangement

Related Terms: autosomal recessive; carrier rate; carrier testing; compound heterozygote; double heterozygote; heterozygote; obligate carrier; obligate heterozygote; X-linked recessive

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