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Literature DB >> 6976926

PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels.

J A Kramps, J W Brouwers, F Maesen, J H Dijkman.

Abstract

A patient with pulmonary emphysema is described, who had a very low alpha 1-antitrypsin serum concentration (2% of normal). After isoelectric focusing and staining, the patient's serum revealed no visible alpha 1-antitrypsin bands. Immunofixation, following isoelectric focusing, gave a banding pattern identical to that of a normal M type. The existence of this deficient M-allele was confirmed by family studies. Low alpha 1-antitrypsin concentrations, due to the presence of the deficient allele, were coupled with low serum antitrypsin activities.

Entities: Disease Gene Species

Mesh：

Substances：
alpha 1-Antitrypsin

Year: 1981 PMID： 6976926 DOI： 10.1007/BF00293055

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

16 in total

PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels.

1. PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN DEFICIENCY.

2. Letter: Alpha 1-antitrypsin null gene (pi-).

3. Immunohistochemistry of liver in alpha1-antitrypsin deficiency. A comparative study.

4. Letter: Alpha1-antitrypsin deficiency: PiO.

5. 1 -Antitrypsin deficiency: a variant with no detectable 1 -antitrypsin.

6. Additional evidence for a deleted gene for serum alpha-1-antitrypsin.

7. Immunochemical quantitation of antigens by single radial immunodiffusion.

8. Alpha1-antitrypsin deficiency with M-like phenotype.

9. An unusual type of alpha1-antitrypsin deficiency in a child.

Review 10. The current status of alpha-1-antityrpsin, a protease inhibitor, in gastrointestinal disease.

1. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.

2. Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes.

3. In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

4. What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.

5. A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.

6. An association between alpha 1-antitrypsin phenotype and chronic liver disease.

7. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton.

8. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.