✦ LIBER ✦

Detection ofAGXTgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxyluria type 1

✍ Scribed by D. Pirulli; M. Giordano; M. Lessi; A. Spanò; D. Puzzer; S. Zezlina; M. Boniotto; S. Crovella; F. Florian; M. Marangella; P. Momigliano-Richiardi; S. Savoldi; A. Amoroso

Publisher: Springer
Year: 2001
Tongue: English
Weight: 85 KB
Volume: 1
Category: Article
ISSN: 0372-8722
DOI: 10.1007/s10238-001-8019-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Detection of α-galactosidase a mutations

Detection of α-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography

✍ Junaid Shabbeer; Misi Robinson; Robert J. Desnick 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB

Mutations in the a-galactosidase A (a-Gal A, GLA) gene cause Fabry disease, an X-linked recessive lysosomal storage disease. The majority of mutations are private, and confirmation of carrier status in females requires the definitive identification of a DNA mutation. In addition, knowledge of a fami

Prenatal diagnosis of glycogen storage d

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

✍ Ching-Wan Lam; Sai-Yuen Sin; Elizabeth T. Lau; Yuen-Yu Lam; Priscilla Poon; Sui- 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 88 KB 👁 2 views

Detection of C677T mutation in methylene

Detection of C677T mutation in methylenetetrahydrofolate reductase gene by denaturing high performance liquid chromatography

✍ Nenghu Fang; Li Lin; Jicun Ren; Dan Wu 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB

Evaluation of denaturing high performanc

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type

✍ Song Han; David N. Cooper; Meena Upadhyaya 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 105 KB

Diagnosis and confirmation of epidermoly

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography

✍ E.L. Rugg; J.E.A. Common; A. Wilgoss; H.P. Stevens; J. Buchan; I.M. Leigh; D.P. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Detection of CPG methylations in human m

Detection of CPG methylations in human mismatch repair gene hMLH1 promoter by denaturing high-performance liquid chromatography (DHPLC)

✍ Da-jun Deng; Guo-ren Deng; Jing Zhou; Hui-jun Xin 📂 Article 📅 2000 🏛 Chinese Anti-Cancer Association 🌐 English ⚖ 199 KB