✦ LIBER ✦

Temperature gradient gel electrophoresis: Rapid detection of alpha-1-antitrypsin deficiency carriers

✍ Scribed by Dr. Anke Hinney; Christine Luckenbach; Horst Ritter

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 426 KB
Volume: 13
Category: Article
ISSN: 0173-0835
DOI: 10.1002/elps.1150130158

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation detection in the alpha-1 antitr

Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis

✍ L. Lodewyckx; C. Vandevyver; C. Vandervorst; W. Van Steenbergen; J. Raus; L. Mic 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB

## Communicated by Johannes Zschocke A method for mutation detection in the alpha-1 antitrypsin gene (protease inhibitor 1; PI) has been developed using denaturing gradient gel electrophoresis of PCR amplified gene fragments. Using this experimental approach, all common phenotypes and mutations co

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 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 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

Establishment of experimental conditions

Establishment of experimental conditions for the rapid detection of mutations in the von Hippel-Lindau gene by parallel temperature gradient gel electrophoresis

✍ Ana Hernández; Alexander Meyer; Jürgen Enczmann; Rolf Ackermann; Peter Wernet 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Three novel mutations of the NF1 gene de

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

✍ Denise Horn; Peter N. Robinson; Annett Böddrich; Annegret Buske; Sigrid Tinscher 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 517 KB

A novel mutation L1425p in the GAP-regio

A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);

✍ Hartmut Peters; D. Hess; R. Fahsold; M. Schülke 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 1 views

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an incidence of between 1: 3000 and 1: 4000. Common clinical signs include more than six café-au-lait spots, multiple cutaneous neurofibromas and iris Lisch nodules. Rarer are skeletal anomalies, learning disabilities and an incre