An unusual case of alpha-1-antitrypsin deficiency: SZ/Z
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference16 articles.
1. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature;Silverman;J. Biol. Chem.,2001
2. Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease;Gooptu;Proc. Natl. Acad. Sci. U. S. A.,2000
3. Role of alpha-1 antitrypsin in human health and disease;De Serres;J. Intern. Med.,2014
4. Alpha-1 antitrypsin deficiency. 2006 Oct 27 [Updated 2017 Jan 19];Stoller,1993
5. Genetic variation of alpha 1-antitrypsin;Cox;Am. J. Hum. Genet.,1978
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2. Newcis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency;American Journal of Respiratory Cell and Molecular Biology;2020-10
3. Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison;Clinical Biochemistry;2020-07
4. NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn;Clinical Biochemistry;2020-05
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