Gene structure and the nature of mutation.

H. H. Kazazian

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


In this paper we have tried to relate the salient features of gene structure, genomic organization, normal variation, and mutations affecting gene expression. The lessons learned from the normal beta-globin gene cluster and mutations producing beta-thalassemia should be greatly applicable to studies of other inherited diseases. As more and more gene probes become available which have relevance to the study of human disease, the striking extent of genetic heterogeneity producing single gene disorders of man will be illuminated.

Original languageEnglish (US)
Pages (from-to)3-11
Number of pages9
JournalMead Johnson Symposium on Perinatal and Developmental Medicine
Issue number22
StatePublished - Dec 1 1983
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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