Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.

Author:

Bamforth F J,Kalsheker N A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. The genetics of a,-antitrypsin: a family study in England and Scotland;Cook, P.J.L.;Ann Hum Genet,1975

2. Structure and variation of human alpha1-antitrypsin;Carrell, R.; Jeppson, J.O.; Laurell, C.B.;Nature,1982

3. Complete sequence of the cDNA for human alpha,-antitrypsin and the gene for the S variant;Biochemistry,1984

4. al-antitrypsin deficiency detection by direct analysis of the mutation in the gene;Kidd, V.J.; Wallace, R.B.; Itakura, K.; Woo, S.L.C.;Nature,1983

5. al-antitrypsin deficiency: a variant with no detectable al-antitrypsin;Talamo, R.C.; Langley, C.E.; Reed, C.E.; Makino, S.;Science,1973

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2. Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency;Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation;2020

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5. Does Protease-Antiprotease Imbalance Explain Chronic Obstructive Pulmonary Disease?;ANN AM THORAC SOC;2016

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