A new alpha 1-antitrypsin mutation, Thr–Met 85, (PI Zbristol) associated with novel electrophoretic properties

Author:

LOVEGROVE J. U.,JEREMIAH S.,GILLETT G. T.,TEMPLE I. K.,POVEY S.,WHITEHOUSE D. B.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

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

2. Identification of a new defective SERPINA1 allele (PI*Z) encoding an alpha-1-antitrypsin with altered glycosylation pattern;Respiratory Medicine;2017-10

3. A patient with the rare alpha-1-antitrypsin variant Zbristol in compound heterozygosity with the Z mutation;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2013-07-15

4. A rare variant of alpha 1 antitrypsin mutations detected in Vietnamese children with liver disease;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2013-06-13

5. Fibrotic response in fibroblasts from congenital disorders of glycosylation;Journal of Cellular and Molecular Medicine;2011-07-13

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