Globin gene structure and the nature of mutation.

Research output: Contribution to journalReview article

Abstract

In this chapter I have tried to relate the salient features of globin 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 highly 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)77-92
Number of pages16
JournalBirth defects original article series
Volume23
Issue number3
StatePublished - 1987

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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