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Literature DB >> 6976856

Typing of genetic variants of alpha 1-antitrypsin by electrofocusing.

J O Jeppsson, B Franzén.

Abstract

Mesh：

Substances：
alpha 1-Antitrypsin

Year: 1982 PMID： 6976856

Source DB: PubMed Journal: Clin Chem ISSN： 0009-9147 Impact factor: 8.327

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20 in total

1. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).

Authors: A Graham; N A Kalsheker; F J Bamforth; C R Newton; A F Markham
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

2. Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.

Authors: Z Albahri; E Marklová; H Vanícek; L Minxová; P Dédek; S Skálová
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

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

Authors: D W Cox; G D Billingsley
Journal: Am J Hum Genet Date: 1989-06 Impact factor: 11.025

4. Neonatal screening for alpha-1-antitrypsin deficiency.

Authors: J Kimpen; E Bosmans; J Raus
Journal: Eur J Pediatr Date: 1988-10 Impact factor: 3.183

5. DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene.

Authors: D W Cox; G D Billingsley; T Mansfield
Journal: Am J Hum Genet Date: 1987-11 Impact factor: 11.025

6. Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products.

Authors: C R Newton; N Kalsheker; A Graham; S Powell; A Gammack; J Riley; A F Markham
Journal: Nucleic Acids Res Date: 1988-09-12 Impact factor: 16.971

Typing of genetic variants of alpha 1-antitrypsin by electrofocusing.

1. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).

2. Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.

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

4. Neonatal screening for alpha-1-antitrypsin deficiency.

5. DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene.

6. Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products.

7. Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG).

8. Change in alpha 1-antitrypsin phenotype after orthotopic liver transplant.

9. Alpha 1-antitrypsin phenotypes in coeliac patients and a control population in the west of Ireland.

10. Three new rare variants of alpha 1-antitrypsin.