Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk (Q24678705)

Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency

Europe PubMed Central

title

Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk (English)

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1 reference

D L DeMeo

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E K Silverman

series ordinal

2

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language of work or name

English

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publication date

March 2004

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published in

Thorax

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volume

59

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page(s)

259-64

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issue

3

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cites work

1 reference

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Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function

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Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q

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Alpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association

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Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)

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Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD)

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Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes

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alpha 1-Antitrypsin Christchurch, 363 Glu----Lys: mutation at the P'5 position does not affect inhibitory activity

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Identifiers

DOI

10.1136/THX.2003.006502

1 reference

874223

874223

1 reference

1 reference

1 reference