Most of the mutations responsible for genetic disease are remarkablysubtle, considering the dramatic effects they may have on thephenotype. A change in just one of many thousand bases in agene can be sufficient to disrupt and thus alter or eliminatethe expression of a protein product. On the other hand, geneticvariation is common from person to person and is usually ofno phenotypic consequence. Benign changes may occur in regionsthat do not encode protein or do alter the properties of theprotein encoded by a gene. The challenge in the molecular diagnosisof gene mutations . . . [Full Text of this Article]
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From the Genetics Division, Children's Hospital, 300 Longwood Ave., Boston, MA 02115, where reprint requests should be addressed to Dr. Korf.
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A correction has been published: N Engl J Med 1995;333(5):331.
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