Alpha1-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha1-Antitrypsin Genes

Robert I. Garver, Jean Francois Mornex, Toshihiro Nukiwa, Mark Brantly, Michael Courtney, Jean Pierre Lecocq, Ronald Crystal

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

EMPHYSEMA is a chronic disorder of the lower respiratory tract characterized by enlargement of the air space distal to the terminal bronchioles resulting from destruction of the alveolar walls.1,2 In the United States and Europe, approximately 2 percent of cases of emphysema are associated with a hereditary deficiency of α1-antitrypsin,3 4 5 6 a 52-kd glycoprotein produced by hepatocytes and, to a lesser extent, mononuclear phagocytes.7 8 9 10 11 12 13 14 15 16 17 The single gene coding for α1-antitrypsin is contained within a 10-kb segment of DNA composed of five exons on chromosome 14.18–20 The two parental alleles are codominantly expressed, and the α1-antitrypsin.

Original languageEnglish
Pages (from-to)762-766
Number of pages5
JournalNew England Journal of Medicine
Volume314
Issue number12
DOIs
Publication statusPublished - 20 Mar 1986
Externally publishedYes

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Bronchioles
Emphysema
Respiratory System
Hepatocytes
Exons
Glycoproteins
Chromosomes
Alleles
Air
DNA
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Alpha1-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha1-Antitrypsin Genes. / Garver, Robert I.; Mornex, Jean Francois; Nukiwa, Toshihiro; Brantly, Mark; Courtney, Michael; Lecocq, Jean Pierre; Crystal, Ronald.

In: New England Journal of Medicine, Vol. 314, No. 12, 20.03.1986, p. 762-766.

Research output: Contribution to journalArticle

Garver, Robert I. ; Mornex, Jean Francois ; Nukiwa, Toshihiro ; Brantly, Mark ; Courtney, Michael ; Lecocq, Jean Pierre ; Crystal, Ronald. / Alpha1-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha1-Antitrypsin Genes. In: New England Journal of Medicine. 1986 ; Vol. 314, No. 12. pp. 762-766.
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abstract = "EMPHYSEMA is a chronic disorder of the lower respiratory tract characterized by enlargement of the air space distal to the terminal bronchioles resulting from destruction of the alveolar walls.1,2 In the United States and Europe, approximately 2 percent of cases of emphysema are associated with a hereditary deficiency of α1-antitrypsin,3 4 5 6 a 52-kd glycoprotein produced by hepatocytes and, to a lesser extent, mononuclear phagocytes.7 8 9 10 11 12 13 14 15 16 17 The single gene coding for α1-antitrypsin is contained within a 10-kb segment of DNA composed of five exons on chromosome 14.18–20 The two parental alleles are codominantly expressed, and the α1-antitrypsin.",
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AU - Brantly, Mark

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AU - Lecocq, Jean Pierre

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