𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnosis of alpha-1-antitrypsin deficiency by serum protein electrophoresis

✍ Scribed by V. G. Justin; T. Venkatesh

Publisher
Association of Clinical Biochemistry of India
Year
2000
Tongue
English
Weight
144 KB
Volume
15
Category
Article
ISSN
0970-1915

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Diagnosis of alpha-1-antitrypsin deficie
Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death
✍ Gursah Kats-Ugurlu; Marije Hogeveen; Ann Driessen; Ans M. W. van den Ouweland; C πŸ“‚ Article πŸ“… 2010 πŸ› Springer 🌐 English βš– 202 KB

Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)\*ZZ) and emphysema with or without hepatitis (PI\*ZZ)/(PI\*SS,SZ or null) in adulthood. We report the case of a female neonate born at 40Β weeks of

Rapid detection of alpha-1-antitrypsin d
Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site
✍ Pamela J. Dry πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 404 KB

A single base substitution is responsible for the PI-Z mutation in alpha-l-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with th