Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.

H. H. Kazazian; S. E. Antonarakis; T. Cheng; C. D. Boehm; P. G. Waber

Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.

H. H. Kazazian, S. E. Antonarakis, T. Cheng, C. D. Boehm, P. G. Waber

School of Medicine

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

DNA polymorphisms have been of great value in defining a small number of common sequences in the beta-globin gene cluster and a region within which recombination may be restricted. Moreover, they have led to a screening procedure that not only has been of great value for the molecular characterization of beta-thalassemia mutations but also has implications for the characterization of other single-gene disorders.

Original language	English (US)
Pages (from-to)	91-98
Number of pages	8
Journal	Progress in clinical and biological research
Volume	134
State	Published - Dec 1 1983

ASJC Scopus subject areas

Medicine(all)

Cite this

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title = "Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.",

abstract = "DNA polymorphisms have been of great value in defining a small number of common sequences in the beta-globin gene cluster and a region within which recombination may be restricted. Moreover, they have led to a screening procedure that not only has been of great value for the molecular characterization of beta-thalassemia mutations but also has implications for the characterization of other single-gene disorders.",

author = "Kazazian, {H. H.} and Antonarakis, {S. E.} and T. Cheng and Boehm, {C. D.} and Waber, {P. G.}",

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AU - Kazazian, H. H.

AU - Antonarakis, S. E.

AU - Cheng, T.

AU - Boehm, C. D.

AU - Waber, P. G.

PY - 1983/12/1

Y1 - 1983/12/1

N2 - DNA polymorphisms have been of great value in defining a small number of common sequences in the beta-globin gene cluster and a region within which recombination may be restricted. Moreover, they have led to a screening procedure that not only has been of great value for the molecular characterization of beta-thalassemia mutations but also has implications for the characterization of other single-gene disorders.

AB - DNA polymorphisms have been of great value in defining a small number of common sequences in the beta-globin gene cluster and a region within which recombination may be restricted. Moreover, they have led to a screening procedure that not only has been of great value for the molecular characterization of beta-thalassemia mutations but also has implications for the characterization of other single-gene disorders.

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ER -

Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.

Abstract

ASJC Scopus subject areas

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