✦ LIBER ✦

A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations

✍ Scribed by Pia A.M de Koning Gans; Ieke Ginjaar; Egbert Bakker; John R.W Yates; Johan T den Dunnen

Book ID: 117671018
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 82 KB
Volume: 9
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(98)00128-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel truncating mut

Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy

✍ Caroline C. Menache; Charlotte A. Brown; Joseph H. Donnelly; Frederic Shapiro; B 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

The Protein Truncation Test (PTT) as a M

The Protein Truncation Test (PTT) as a Method of Detection for Choroideremia Mutations

✍ L. BEAUFRÈRE; S. TUFFERY; C. HAMEL; C. BAREIL; B. ARNAUD; J. DEMAILLE; M. CLAUST 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 646 KB

A non-radioactive protein truncation tes

A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

✍ Sabine Kahmann; Peter Herter; Cornelius Kuhnen; Klaus-Michael Müller; Gert Muhr; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 435 KB

A new method for mutation detection is described, which is a technical advancement of the protein truncation test. The new technique is non-radioactive and highly sensitive for detection of virtually all sequence mutations, which lead to a stop signal or to the shift of the translation frame. The me

Reliable and sensitive detection of prem

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

✍ John F. Bateman; Susanna Freddi; Shireen R. Lamandé; Peter Byers; Steven Nasioul 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 2 views

The protein truncation test (PTT) is a mutation-detection method used to scan for premature termination (nonsense) mutations. PCR amplification of the DNA or mRNA source material is performed using forward primers containing a T7-promoter sequence and translation initiation signals such that the res