✦ LIBER ✦

Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography

✍ Scribed by Ching-Wan Lam; Ka-Ning Hui; Priscilla Miu-Kuen Poon; Nai-Ming Luk; Yuet-Ping Yuen; Sui-Fan Tong; Chi-Kong Lai; Yan-Wo Chan; Kuen-Kong Lo

Book ID: 117074165
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 137 KB
Volume: 305
Category: Article
ISSN: 0009-8981
DOI: 10.1016/s0009-8981(01)00382-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Efficient detection of factor IX mutatio

Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations

✍ Lin, Pei-Chin; Su, Yi-Ning; Liao, Yu-Mei; Chang, Tai-Tsung; Tsai, Shih-Pien; Shu 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 827 KB

Validation of Denaturing High Performanc

Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations

✍ Orlow, Irene; Roy, Pampa; Barz, Allison; Canchola, Rebecca; Song, Yan; Berwick, 📂 Article 📅 2001 🏛 American Society for Investigative Pathology 🌐 English ⚖ 269 KB

Pendred syndrome and DFNB4-mutation scre

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

✍ Sai Prasad; Karen A. Kölln; Robert A. Cucci; Richard C. Trembath; Guy Van Camp; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB 👁 2 views

Rapid denaturing high-performance liquid

Rapid denaturing high-performance liquid chromatography (DHPLC) for mutation scanning of the transforming growth factor beta3 gene using a novel proof-reading polymerase

✍ Bayat, A. ;Walter, J. M. ;Lamb, H. ;Ferguson, M. W. J. ;Ollier, W. E. R. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB

A novel mutation at the invariant accept

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

✍ David H. Brown; Barbara L. Triggs-Raine; Matthew J. McGinniss; Michael M. Kaback 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 251 KB 👁 2 views

High frequency of the 425A→G splice-site

High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

✍ M. Csikós; H.I. Szőcs; A. Lászik; S. Mecklenbeck; A. Horváth; S. Kárpáti; L. Bru 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB